Variant: rs367543286 

    present in Gene: PDGFRB
    present in Chromosome: 5
    Position on Chromosome: 150125571
    Alleles of this Variant: G/A

rs367543286 in PDGFRB gene and Infantile myofibromatosis PMID 28334876 2017 PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.

rs367543286 in PDGFRB gene and MYOFIBROMATOSIS, INFANTILE, 1 PMID 28183292 2017 Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.

PMID 26455322 2016 PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.

PMID 23731537 2013 A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

PMID 23731542 2013 Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.