Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.G566D
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F2

NM_000506.5:p.G566D

Associated Papers

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).

Pagel J et al.

Blood, 2012

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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."