Varaico: Literature-Extracted Genetic Variants

Gene:ERMAP
Variant:p.E47K
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ERMAP

NM_001017922.2:p.E47K

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580

SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system.

Flegel WA et al.

Transfusion, 2005

STAR: a novel high-prevalence antigen in the Scianna blood group system.

Hue-Roye K et al.

Transfusion, 2005

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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."