Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.Q970*
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COL4A4

NM_000092.5:p.Q970*

Associated Papers

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

Huang Y et al.

Renal Failure, 2025

41087309 (PubMed )
Supplement: IRNF_A_2570072_SM8037.xlsx › Sheet1

A no-nonsense approach to hereditary kidney disease.

Tokhmafshan F et al.

Pediatric Nephrology (berlin, Germany), 2020

Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Gillion V et al.

Kidney International Reports, 2018

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