Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.P1109S
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COL4A5

NM_033380.3:p.P1109S

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

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

Kovács G et al.

Plos One, 2016

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Longo I et al.

Kidney International, 2002

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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."