Condition: Deafness, Autosomal Recessive 28
rs549095193 in
TRIOBP gene and
Deafness, Autosomal Recessive 28
PMID 16385457 2006 Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
PMID 16385458 2006 Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.