Varaico: Literature-Extracted Genetic Variants

Gene:GLI1
Variant:p.W272C
Back to variants list

GLI1

NM_005269.3:p.W272C

Associated Papers

Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families.

Saeed T et al.

Genetic Testing and Molecular Biomarkers, 2025

A review of polydactyly and its inheritance: Connecting the dots.

Bubshait DK

Medicine, 2022

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Palencia-Campos A et al.

Human Mutation, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."