ArticleFrontiers in pharmacology2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Article in Frontiers in pharmacology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Integrated mapping resolves pathogenicity of 11Journal of the Endocrine Society · 2026Article
- [Congenital adrenal hyperplasia].Problemy endokrinologii · 2026Review
- Mapping the Functional Epitopes of Human Growth Hormone: Integrating Structural and Evolutionary Data with Clinical Variants.Current issues in molecular biology · 2025Article
- Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.Annals of pediatric endocrinology & metabolism · 2025Article
- Comprehensive genome analysis and variant detection at scale using DRAGEN.Nature biotechnology · 2025Article
- Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer.Scientific reports · 2025Article
- Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.bioRxiv : the preprint server for biology · 2024Article
- Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.Frontiers in veterinary science · 2024Article
- Exploring Novel Variants of the Cytochrome P450 Reductase Gene (Biomolecules · 2023Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases. One of the most accessible tools to infer the pathogenicity of new variants is
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.