Assertion: neurofibromatosis | /r/CreatedBy | germline mutations
Facets:
value: in the nf1 gene
type: OTHER
value: at chromosome
type: OTHER
Source sentences:
text: Neurofibromatosis 1 (NF1) is a common autosomal dominant neurocutaneous disorder caused by germline mutations in the NF1 gene at chromosome 17 that encodes the protein neurofibromin; penetrance is complete, but expression is highly variable and age-dependent. •