Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.Y122*
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GLI3

NM_000168.6:p.Y122*

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

Genetic overview of postaxial polydactyly: Updated classification.

Ahmad Z et al.

Clinical Genetics, 2023

A review of polydactyly and its inheritance: Connecting the dots.

Bubshait DK

Medicine, 2022

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

De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models.

Yang L et al.

Biochimica Et Biophysica Acta, 2014

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

Furniss D et al.

Journal of Medical Genetics, 2009

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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."