Frequent variants pre-screened in 28 LCA families.
收藏NIAID Data Ecosystem2026-03-08 收录
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#In original description [64] this variant erroneously was indicated as c.3101T>C. $In lymphoblast cells, 50% of the resulting mRNA contains a cryptic exon resulting in a predicted stop mutation and 50% of the mRNA is normal [28]. Frequent variants pre-screened in 28 LCA families.
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2015-03-16
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