Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.S447Splc
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COL4A5

NM_033380.3:p.S447Splc

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Spectrum of Alport syndrome in an Indian cohort.

Yadav M et al.

Pediatric Nephrology (berlin, Germany), 2025

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