Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1092E
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COL4A5

NM_033380.3:p.G1092E

Associated Papers

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

Popp B et al.

European Journal of Human Genetics : Ejhg, 2022

Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.

Boeckhaus J et al.

Clinical Genetics, 2021

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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."