Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.D512E
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GLIS3

NM_001042413.2:p.D512E

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

41463395 (PubMed )
Supplement: biomolecules-15-01742-s001.zip › Supplementary_Materials_2.xlsx › Table_S5

Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants.

Sun J et al.

Plos One, 2019

A frequent oligogenic involvement in congenital hypothyroidism.

de Filippis T et al.

Human Molecular Genetics, 2017

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