Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1006V
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COL4A5

NM_033380.3:p.G1006V

Associated Papers

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

Zhang R et al.

Molecular Genetics & Genomic Medicine, 2024

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Gibson JT et al.

Scientific Reports, 2022

35177655 (PubMed )
Supplement: 41598_2022_6525_MOESM1_ESM.docx

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Yao T et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2019

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Shulman C et al.

Kidney Medicine, 0

33851121 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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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."