Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A11
Variant:p.M526I
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SLC5A11

NM_001352248.3:p.M526I

Associated Papers

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.

Roll P et al.

Gene, 2002

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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."