Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

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Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Marco Tartaglia, Charlotte M. Niemeyer, Alessandra Fragale et al. · Nature Genetics · 2003 · 1K citations

Hematological Malignancy, Chromatin, Somatic Variant +10

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella et al. · The American Journal of Human Genetics · 2006 · 420 citations · Full text

Somatic Variant, Genetic Disorder, Genetics +9

PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase

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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Trevor J. Pugh, Melissa Kelly, Sivakumar Gowrisankar et al. · Genetics in Medicine · 2014 · 362 citations

Clinical Dna Sequencing, Heart Failure, Cardiomyopathy +10