Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.S1532Fs
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GLI3

NM_000168.6:p.S1532Fs

Associated Papers

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

Letter to the editor regarding: "Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients" Clinica Chimica acta 433 (2014) 195-199.

Baas M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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

Johnston JJ et al.

Human Mutation, 2010

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