Varaico: Literature-Extracted Genetic Variants

Gene:BICC1
Variant:p.E932G
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BICC1

NM_001080512.3:p.E932G

Associated Papers

A Homozygous Nonsense Variant in the BICC1 Gene Associated With Fetal Cystic Kidney Disease and Lower Limb Post-Axial Polydactyly.

Tamhankar VP et al.

American Journal of Medical Genetics. Part A, 2025

Role of the RNA-binding protein Bicaudal-C1 and interacting factors in cystic kidney diseases.

Rothé B et al.

Cellular Signalling, 2020

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.

Kraus MR et al.

Human Mutation, 2012

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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."