Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.G666_R667delFs
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GLI3

NM_000168.6:p.G666_R667delFs

Associated Papers

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

Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3.

Yang Y et al.

Frontiers in Surgery, 2021

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Johnston JJ et al.

American Journal of Human Genetics, 2005

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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."