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The amount of variants in ClinVar which might be contained within just this gene, using a website link to look at the list of variants.
Aberrant five' splice web-sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational tools that forecast their utilization.
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So this date may be distinct within the day from the “most up-to-date submission” described at the top of this webpage. Enable Abide by NCBI
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