Varaico: Literature-Extracted Genetic Variants

Gene:INVS
Variant:p.Q671*
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INVS

NM_014425.5:p.Q671*

Associated Papers

Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia.

Suizu F et al.

The Embo Journal, 2016

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

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."