Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G990Splc
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COL4A4

NM_000092.5:p.G990Splc

Associated Papers

Candidate Genetic Modifiers in Alport Syndrome: A Case Series.

Lujinschi ȘN et al.

Life (basel, Switzerland), 2025

40003707 (PubMed )
Supplement: life-15-00298-s001.zip › life-3339776-supplementary.pdf

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
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