Varaico: Literature-Extracted Genetic Variants

Gene:ARSL
Variant:p.A91V
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ARSL

NM_000047.3:p.A91V

Associated Papers

Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma.

Cannella S et al.

Cancer, 2007

Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.

Marcenaro S et al.

Blood, 2006

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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."