Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G626S
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COL4A5

NM_033380.3:p.G626S

Associated Papers

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

Gibson JT et al.

Scientific Reports, 2022

Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

Gibson J et al.

Journal of the American Society of Nephrology : Jasn, 2021

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