Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.H561Y
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GLIS3

NM_001042413.2:p.H561Y

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

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

Jetten AM

Cellular and Molecular Life Sciences : Cmls, 2018

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

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

Dimitri P et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."