Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.P719S
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GLI3

NM_000168.6:p.P719S

Associated Papers

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

Bonilla-Navarrete S et al.

Molecular Genetics & Genomic Medicine, 2025

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

Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.

Ito S et al.

Diagnostic Pathology, 2018

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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."