Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.Q993*
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GLI3

NM_000168.6:p.Q993*

Associated Papers

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

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

Green TE et al.

Human Molecular Genetics, 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

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Johnston JJ et al.

Human Mutation, 2010

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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."