Varaico: Literature-Extracted Genetic Variants

Gene:BICC1
Variant:p.Q87*
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BICC1

NM_001080512.3:p.Q87*

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

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."