Gene · 1589
Papers3,802
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
101 to 120 of 3,802
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants. | Int J Mol Sci | 2025 | 41303398 | PubTator, text mining | PubMed |
| Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing. | Orphanet J Rare Dis | 2025 | 41272832 | PubTator, text mining | PubMed |
| [Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis]. | Zhongguo Dang Dai Er Ke Za Zhi | 2025 | 41250536 | PubTator, text mining | PubMed |
| Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients. | J Ovarian Res | 2025 | 41219732 | PubTator, text mining | PubMed |
| Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant. | Ther Adv Endocrinol Metab | 2025 | 41180579 | PubTator, text mining | PubMed |
| Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis. | Eur J Endocrinol | 2025 | 41109685 | PubTator, text mining | PubMed |
| Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. | JCEM Case Rep | 2025 | 41080979 | PubTator, text mining | PubMed |
| The Current Treatment Landscape for Congenital Adrenal Hyperplasia. | Drugs | 2025 | 41037194 | PubTator, text mining | PubMed |
| Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology. | Risk Manag Healthc Policy | 2025 | 40980470 | PubTator, text mining | PubMed |
| Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs. | Genet Med Open | 2025 | 40893834 | PubTator, text mining | PubMed |
| Keeping Up With Carney Complex: A Case of Recurrent Cardiac Myxomas. | JACC Case Rep | 2025 | 40883093 | PubTator, text mining | PubMed |
| 21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. | Arch Dis Child | 2025 | 40780708 | PubTator, text mining | PubMed |
| Hyperandrogenism-induced Athletic Excellence in a Young Patient with Adrenocortical Carcinoma: 10 Years of Remission. | JCEM Case Rep | 2025 | 40746503 | PubTator, text mining | PubMed |
| A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the CYP21A2 Gene. | Int J Mol Sci | 2025 | 40724898 | PubTator, text mining | PubMed |
| Integration of Adjunctive Therapy for Congenital Adrenal Hyperplasia. | Children (Basel) | 2025 | 40723091 | PubTator, text mining | PubMed |
| Longitudinal 12-Month Follow-Up of a Male Infant with CYP21A2 Compound Heterozygous Genotype in China: A Case Report. | AJP Rep | 2025 | 40686543 | PubTator, text mining | PubMed |
| Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations. | Front Pediatr | 2025 | 40656193 | PubTator, text mining | PubMed |
| High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing. | Sci Rep | 2025 | 40640193 | PubTator, text mining | PubMed |
| PGT-M as A Family Planning Tool for A Couple in Which The Woman Carries A Novel NCAH Variant and A CYP21A2 Variant also Present in Her Husband: A Case Report. | Int J Fertil Steril | 2025 | 40590294 | PubTator, text mining | PubMed |
| Machine Learning and Large Language Models for Modeling Complex Toxicity Pathways and Predicting Steroidogenesis. | Environ Sci Technol | 2025 | 40576990 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
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GET https://conductscience.org/api/genes/v1/1589/papers?page=6