Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.G311delFs
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GLIS3

NM_001042413.2:p.G311delFs

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

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Wyatt RC et al.

Diabetologia, 2022

35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf

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

London S et al.

Frontiers in Endocrinology, 2021

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

Dimitri P et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

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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."