Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.E117*
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AICDA

NM_020661.4:p.E117*

Associated Papers

The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin.

Peretz H et al.

Blood, 1997

Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

Ledley FD et al.

Human Mutation, 1997

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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."