Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.V101I
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SLC2A2

NM_000340.2:p.V101I

Associated Papers

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.

Yu MG et al.

The Journal of Clinical Investigation, 2019

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.

Enogieru OJ et al.

Human Mutation, 2019

A population-specific uncommon variant in GRIN3A associated with schizophrenia.

Takata A et al.

Biological Psychiatry, 2013

Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.

Kokubo Y et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006

Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects.

Shimada F et al.

Diabetologia, 1995

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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."