Normal allele: AA
Nav1.7 mutations cause a risk of idiopathic small fibre neuropathy.
Polymorphism rs200945460 is related to topics like this:
Research and publications:
21698661 Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
24088041 Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
26633545 Molecular diagnostic experience of whole-exome sequencing in adult patients.