Frequent variants pre-screened in 28 LCA families.
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https://figshare.com/articles/dataset/_Frequent_variants_pre_screened_in_28_LCA_families_/1337074
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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.
创建时间：
2015-03-16
