Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G748S
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COL4A4

NM_000092.5:p.G748S

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2022

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

Identification of COL4A4 variants in Chinese patients with familial hematuria.

Gao Y et al.

Frontiers in Genetics, 2022

DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.

Andersson N et al.

Communications Biology, 2021

34545199 (PubMed )
Supplement: 42003_2021_2637_MOESM4_ESM.zip › Supplementary_data_6_TRACERx-MAGOS.xlsx › EM_Dev_all

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

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Papazachariou L et al.

Clinical Genetics, 2017

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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."