Condition: Vocal Cord Paralysis
rs267607144 in
TRPV4 gene and
Vocal Cord Paralysis
PMID 22702953 2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
PMID 20037588 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
PMID 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.