On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness
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DOI: 10.1080/13816810.2017.1354384
Abstract: ABSTRACT The p.R713Q variant of the semaphorin‐4a‐encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or… read more here.
Keywords: disease causing; causing mutations; variants disease; case studies ... See more keywords