Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.Y79*
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SLC19A2

NM_006996.3:p.Y79*

Associated Papers

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Patel KA et al.

Diabetologia, 2022

34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

Ali Khan I

Heliyon, 2021

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Marcé-Grau A et al.

Journal of Inherited Metabolic Disease, 2019

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM et al.

Diabetologia, 2018

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

24411943 (PubMed )
Supplement: mmc1.pdf

Unusual case of thiamine responsive megaloblastic anemia.

Tinsa F et al.

La Tunisie Medicale, 2009

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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."