Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.P1285insFs
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GLI3

NM_000168.6:p.P1285insFs

Associated Papers

Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families.

Guo X et al.

Genetic Testing and Molecular Biomarkers, 2023

Genetic overview of postaxial polydactyly: Updated classification.

Ahmad Z et al.

Clinical Genetics, 2023

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

Bubshait DK

Medicine, 2022

A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.

Wang Y et al.

Molecular Genetics & Genomic Medicine, 2022

35546307 (PubMed )
Supplement: MGG3-10-e1968-s002.xlsx › table

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.

Sczakiel HL et al.

Clinical Genetics, 2021

A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.

Ni F et al.

Annals of Plastic Surgery, 2019

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

Mumtaz S et al.

European Journal of Medical Genetics, 2017

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.

Wang Z et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."