Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.P791delFs
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GLI3

NM_000168.6:p.P791delFs

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

Genetic overview of postaxial polydactyly: Updated classification.

Ahmad Z et al.

Clinical Genetics, 2023

Hedgehog-GLI mediated control of renal formation and malformation.

Greenberg D et al.

Frontiers in Nephrology, 2023

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

Bubshait DK

Medicine, 2022

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

Furniss D et al.

Journal of Medical Genetics, 2009

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

Furniss D et al.

American Journal of Medical Genetics. Part A, 2007

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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."