Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.Y1533*
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COL4A4

NM_000092.5:p.Y1533*

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

Mutation Analysis of Thin Basement Membrane Nephropathy.

Hirabayashi Y et al.

Genes, 2022

36292665 (PubMed )
Supplement: genes-13-01779-s001.zip › Table_S5.xlsx › 145_cases

New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.

García-Aznar JM et al.

Journal of Clinical Medicine, 2022

36013122 (PubMed )
Supplement: jcm-11-04883-s001.zip › jcm-1756647-supplementary.pdf

Identification of COL4A4 variants in Chinese patients with familial hematuria.

Gao Y et al.

Frontiers in Genetics, 2022

A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State.

Yang C et al.

Frontiers in Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."