Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.R643*
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GLI3

NM_000168.6:p.R643*

Associated Papers

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Qi Y et al.

Molecular Genetics & Genomic Medicine, 2025

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.

Wang RY et al.

Journal of Orthopaedic Surgery and Research, 2024

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

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

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.

Kariminejad A et al.

Clinical Genetics, 2020

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

Advances in the molecular genetics of non-syndromic polydactyly.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

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

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Radhakrishna U et al.

American Journal of Human Genetics, 1999

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