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The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation
Molecular Vision, 09/15/09
Graw J et al. – Although the CX50I247M substitution has previously been suggested to cause cataracts, this genetic, cellular, and electrophysiological data suggest that this allele more likely represents a rare silent, polymorphic variant.
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