Condition: Autosomal dominant vitreoretinochoroidopathy
rs121918290
in
BEST1;LOC107984334
gene and
Autosomal dominant vitreoretinochoroidopathy
PMID 15452077
2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
PMID 22234150
2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
rs121918289
in
LOC107984334;BEST1
gene and
Autosomal dominant vitreoretinochoroidopathy
PMID 15452077
2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
PMID 22234150
2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).