Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.C609Y
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GLI3

NM_000168.6:p.C609Y

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

A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly.

Nguyen TN et al.

Molecular Genetics & Genomic Medicine, 2024

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

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

Crapster JA et al.

American Journal of Medical Genetics. Part A, 2017

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