Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.R53Q
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SLC2A2

NM_000340.2:p.R53Q

Associated Papers

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

Yu MG et al.

The Journal of Clinical Investigation, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339
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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."