Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1030V
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COL4A5

NM_033380.3:p.G1030V

Associated Papers

Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.

Kamura M et al.

Kidney International Reports, 2020

32405592 (PubMed )
Supplement: mmc1.pdf

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E et al.

American Journal of Human Genetics, 1998

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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."