Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.R1238H
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COL4A1

NM_001845.6:p.R1238H

Associated Papers

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Liu JL et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf
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