Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.T682A
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GLI3

NM_000168.6:p.T682A

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

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

Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.

Brauner R et al.

Frontiers in Pediatrics, 2021

The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype.

Al-Qattan MM et al.

Gene, 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."