Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.E962*
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COL4A4

NM_000092.5:p.E962*

Associated Papers

Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.

Savige J

Pediatric Nephrology (berlin, Germany), 2020

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."