Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G881R
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COL4A5

NM_033380.3:p.G881R

Associated Papers

Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.

Chen JY et al.

Scientific Reports, 2025

Hydroxychloroquine Ameliorates Hematuria in Children with X-Linked Alport Syndrome: Retrospective Case Series Study.

Sun L et al.

Pharmacogenomics and Personalized Medicine, 2023

Determination of the pathogenicity of a novel COL4A5 missense variant by CRISPR-Cas9 in kidney podocytes.

Sun L et al.

American Journal of Translational Research, 2021

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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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."