Condition: Cataract, Congenital, Cerulean Type, 2
rs886041410
in
CRYBB2
gene and
Cataract, Congenital, Cerulean Type, 2
PMID 24120835
2014 The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly.
PMID 24704203
2014 Cataract-linked mutation R188H promotes βB2-crystallin aggregation and fibrillization during acid denaturation.