Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.S1594_M1603ins3
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COL4A4

NM_000092.5:p.S1594_M1603ins3

Associated Papers

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Halat-Wolska P et al.

Genes, 2025

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H et al.

Journal of the American Society of Nephrology : Jasn, 2013

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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."