Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.V532I
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SLC26A1

NM_022042.4:p.V532I

Associated Papers

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease.

Mukawa M et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 985.382
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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."