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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease noonan syndrome
Comorbidity C0023418|leukaemia
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PubMedID- 24803665 For example, tartaglia and colleagues assessed ptpn11 (shp2) mutations by comparing somatic mutations in juvenile myelomonocytic leukaemia (jmml) with noonan syndrome germline mutations, and they identified a greater activation of the ras/mapk activation for the jmml‐associated mutations (tartaglia et al, 2003).

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