Varaico: Literature-Extracted Genetic Variants

Gene:INVS
Variant:p.P482R
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INVS

NM_014425.5:p.P482R

Associated Papers

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

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

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

Otto EA et al.

Nature Genetics, 2003

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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."