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The number of variants in ClinVar that happen to be contained inside of this gene, which has a website link to perspective the list of variants.
Aberrant 5' splice web-sites in human ailment genes: mutation pattern, nucleotide construction and comparison of computational equipment that forecast their utilization.
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The ailment for the classification, provided by the submitter for this submitted (SCV) document. This column also contains the impacted standing and allele origin of individuals observed using this type of variant.
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Examine our principles for calculating the evaluate status. This column also features a link on the submitter’s assertion conditions if offered, and the gathering technique.
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