Varaico: Literature-Extracted Genetic Variants

Gene:CCNH
Variant:p.M1L
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CCNH

NM_001239.4:p.M1L

Associated Papers

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.

Feldmann J et al.

British Journal of Haematology, 2002

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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."