Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.G157R
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COL4A3

NM_000091.5:p.G157R

Associated Papers

Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome.

Inoki Y et al.

Kidney360, 2024

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.

Yavas C et al.

Molecular Syndromology, 2024

Polygenic risk alters the penetrance of monogenic kidney disease.

Khan A et al.

Nature Communications, 2023

38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM5_ESM.xlsx › M3

Polygenic risk affects the penetrance of monogenic kidney disease.

Khan A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37214819 (PubMed )
Supplement: media-2.xlsx › M3

Mutation Analysis of Thin Basement Membrane Nephropathy.

Hirabayashi Y et al.

Genes, 2022

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

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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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."