Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.M1032T
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COL4A5

NM_033380.3:p.M1032T

Associated Papers

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

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

Popp B et al.

European Journal of Human Genetics : Ejhg, 2022

36100708 (PubMed )
Supplement: 41431_2022_1177_MOESM1_ESM.pdf
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