Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.C682_D684delFs
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COL4A3

NM_000091.5:p.C682_D684delFs

Associated Papers

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.

Chen D et al.

Molecular Genetics & Genomic Medicine, 2025

39924725 (PubMed )
Supplement: MGG3-13-e70053-s002.xlsx › Sheet1

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.

Zhang Y et al.

Pediatric Nephrology (berlin, Germany), 2021

[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome].

Wang F et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2014

Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

Zhang Y et al.

American Journal of Medical Genetics. Part A, 2012

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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."