Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.P368S
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CAT

NM_001752.4:p.P368S

Associated Papers

Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.

Tikhomirov E et al.

Human Genetics, 2008

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

Lenkkeri U et al.

American Journal of Human Genetics, 1999

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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."