Varaico: Literature-Extracted Genetic Variants

Gene:INVS
Variant:p.C398W
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INVS

NM_014425.5:p.C398W

Associated Papers

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Oud MM et al.

American Journal of Medical Genetics. Part A, 2014

Inversin, Wnt signaling and primary cilia.

Lienkamp S et al.

Differentiation; Research in Biological Diversity, 2012

A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.

Bellavia S et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

Tory K et al.

Kidney International, 2009

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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."