Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G957R
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COL4A4

NM_000092.5:p.G957R

Associated Papers

Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study.

Nam J et al.

Journal of Clinical Medicine, 2024

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

Inoki Y et al.

Kidney360, 2024

Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.

Yuan X et al.

Journal of the American Society of Nephrology : Jasn, 2023

Mutation Analysis of Thin Basement Membrane Nephropathy.

Hirabayashi Y et al.

Genes, 2022

36292665 (PubMed )
Supplement: genes-13-01779-s001.zip › Table_S5.xlsx › 145_cases

Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.

Matthaiou A et al.

Clinical Kidney Journal, 2020

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

Kamiyoshi N et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2016

A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.

Xu Y et al.

Scientific Reports, 2016

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Marcocci E et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Pescucci C et al.

Kidney International, 2004

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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."