A Novel Mutation in CRYBB1 Associated With Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer but Not the βB1-crystallin Homomer

Human Mutation - United States
doi 10.1002/humu.21436
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Genetics
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Wiley

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