A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient
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DOI: 10.1002/mgg3.1490
Abstract: Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia… read more here.
Keywords: splicing alteration; choroideremia; alteration; chm gene ... See more keywords