Associated Papers
REEV: review, evaluate and explain variants.
Hramyka D et al.
Nucleic Acids Research, 2024
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
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL et al.
Clinical Genetics, 2021
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