Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.A50A
Back to variants list

KDM5C

NM_004187.5:p.A50A

Associated Papers

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.

Ghasemi MR et al.

Molecular Genetics & Genomic Medicine, 2025

39835750 (PubMed )
Supplement: MGG3-13-e70057-s001.xlsx › splice_site

[Clinical phenotype and genetic analysis of a Chinese patient featuring X-linked Claes-Jensen type syndromic mental retardation].

Gao M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."