Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.P1402S
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COL4A4

NM_000092.5:p.P1402S

Associated Papers

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Marcocci E et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

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

Rana K et al.

Pediatric Nephrology (berlin, Germany), 2007

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E et al.

American Journal of Human Genetics, 1998

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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."