Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.D1128fs
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GLI3

NM_000168.6:p.D1128fs

Associated Papers

Genetic overview of postaxial polydactyly: Updated classification.

Ahmad Z et al.

Clinical Genetics, 2023

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

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Baas M et al.

Journal of Medical Genetics, 2021

32591344 (PubMed )
Supplement: jmedgenet-2020-106948supp001.pdf

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

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