Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.F523L
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ATM

NM_000051.4:p.F523L

Associated Papers

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

Aksentijevich I et al.

Arthritis and Rheumatism, 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."