Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.L256F
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XIAP

NM_001167.4:p.L256F

Associated Papers

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.

Ahmari AA et al.

Blood Research, 2021

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

Qian Y et al.

Pediatric Blood & Cancer, 2014

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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."