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Paper Details

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet
132
2013
AD IM, Arg561Cys, IM, Infantile myofibromatosis, NOTCH, NOTCH3, PDGFRB, PDGFRB mutations, autosomal-dominant infantile myofibromatosis, c, c.1681C, c.1978C, c.4556T>C (p, disorder of mesenchymal proliferation, mutations, p.Arg561Cys, p.Leu1519Pro, p.Pro660Thr, tumor, tumors

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