Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.R689_D690insFs
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GLIS3

NM_001042413.2:p.R689_D690insFs

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

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

London S et al.

Frontiers in Endocrinology, 2021

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

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Dimitri P et al.

American Journal of Medical Genetics. Part A, 2016

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

TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.

Lichti-Kaiser K et al.

Journal of Endocrinology, Diabetes & Obesity, 2014

Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.

Habeb AM et al.

Pediatric Diabetes, 2012

Novel GLIS3 mutations demonstrate an extended multisystem phenotype.

Dimitri P et al.

European Journal of Endocrinology, 2011

Gli-similar (Glis) Krüppel-like zinc finger proteins: insights into their physiological functions and critical roles in neonatal diabetes and cystic renal disease.

Kang HS et al.

Histology and Histopathology, 2010

Neonatal diabetes mellitus.

Aguilar-Bryan L et al.

Endocrine Reviews, 2008

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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."