Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.L1468_L1469insG
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GLI3

NM_000168.6:p.L1468_L1469insG

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

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Cassim A et al.

Orphanet Journal of Rare Diseases, 2022

Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

Sethi SK et al.

European Journal of Pediatrics, 2013

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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."