Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.R589W
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GLIS3

NM_001042413.2:p.R589W

Associated Papers

Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.

Almhmoudi F et al.

Ophthalmic Genetics, 2025

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation

Sarıkaya E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations in GLIS3 gene.

Perdas E et al.

Pediatric Diabetes, 2022

Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins.

London S et al.

Frontiers in Endocrinology, 2021

GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.

Jetten AM

Cellular and Molecular Life Sciences : Cmls, 2018

The role of GLIS3 in thyroid disease as part of a multisystem disorder.

Dimitri P

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

Emerging roles of GLIS3 in neonatal diabetes, type 1 and type 2 diabetes.

Wen X et al.

Journal of Molecular Endocrinology, 2017

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

Dimitri P et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S et al.

Diabetologia, 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."