Varaico: Literature-Extracted Genetic Variants

Gene:GLI1
Variant:p.R113*
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GLI1

NM_005269.3:p.R113*

Associated Papers

Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families.

Saeed T et al.

Genetic Testing and Molecular Biomarkers, 2025

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.

Ahmad S et al.

Genes, 2023

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.

Yousaf M et al.

Congenital Anomalies, 2020

Clinical Genetics of Polydactyly: An Updated Review.

Umair M et al.

Frontiers in Genetics, 2018

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Palencia-Campos A et al.

Human Molecular Genetics, 2017

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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."