Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.G139E
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COL4A3

NM_000091.5:p.G139E

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

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

Cerkauskaite A et al.

Frontiers in Medicine, 2022

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