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Wang KJ, Wang S, Cao NQ, Yan YB, Zhu SQ. 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. Hum Mutat. 2011 Mar;32(3):E2050–60. PMID: 21972112; PMCID: PMC3087119. |