Condition: Alpha-B Crystallinopathy
rs104894201
in
CRYAB
gene and
Alpha-B Crystallinopathy
PMID 21920752
2012 A novel CRYAB mutation resulting in multisystemic disease.
PMID 12601044
2003 Alteration of protein-protein interactions of congenital cataract crystallin mutants.
PMID 14681890
2003 Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.
PMID 9731540
1998 A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.