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Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide structure and comparison of computational tools that forecast their utilization.
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The submitting Firm for this submitted (SCV) document. This column also consists of the SCV accession and Variation range, the date this SCV initial appeared in ClinVar, and the day that this SCV was past up to date in ClinVar.
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The number of variants in ClinVar that happen to be contained inside this gene, using a connection to check out the list of variants.
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Stars depict the assessment status, or the extent of overview supporting the submitted (SCV) document. This value is calculated by NCBI dependant on facts through the submitter.
The influence from the variant on RNA or protein purpose, according to experimental proof from submitters.
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