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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease severe combined immunodeficiency
Comorbidity C0079731|b cell lymphoma
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PubMedID- 22529269 Unexpectedly however, six patients with hypomorphic mutations in artemis have been identified so far that have either partial or complete deletion of the c-terminal region, and two of them present rs-scid associated with predisposition to b cell lymphoma (moshous et al., 2003; musio et al., 2005; van der burg et al., 2007).

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