Condition: USHER SYNDROME, TYPE IG
rs397517925 in
USH1G gene and
USHER SYNDROME, TYPE IG
PMID 20142502 2010 The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
PMID 16283141 2005 A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
PMID 12588794 2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
rs104894651 in
USH1G;OTOP2 gene and
USHER SYNDROME, TYPE IG
PMID 16283141 2005 A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
PMID 12588794 2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
PMID 20142502 2010 The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.