Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G463delFs
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COL4A4

NM_000092.5:p.G463delFs

Associated Papers

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.

Cerkauskaite-Kerpauskiene A et al.

International Journal of Molecular Sciences, 2025

40806767 (PubMed )
Supplement: ijms-26-07639-s001.zip › ijms-3755155-supplementary.pdf

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
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