Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
Varga
R
R
Kelley
P M
PM
Keats
B J
BJ
Starr
A
A
Leal
S M
SM
Cohn
E
E
Kimberling
W J
WJ
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D013577:Syndrome
D005819:Genetic Markers; D008565:Membrane Proteins; C118457:OTOF protein, human