Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.A1577A
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COL4A4

NM_000092.5:p.A1577A

Associated Papers

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.

Yavas C et al.

Molecular Syndromology, 2024

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Lucas SEM et al.

Plos One, 2018

29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.

Rana K et al.

Pediatric Nephrology (berlin, Germany), 2007

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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."