BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
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DOI: 10.1002/mgg3.2095
Abstract: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. read more here.
Keywords: novel mutation; mutation causes; best1 novel; diversity ... See more keywords