Varaico: Literature-Extracted Genetic Variants

Gene:TFRC
Variant:p.L209P
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TFRC

NM_001128148.3:p.L209P

Associated Papers

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

zur Stadt U et al.

American Journal of Human Genetics, 2009

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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."