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Aberrant five' splice websites in human disease genes: mutation pattern, nucleotide composition and comparison of computational instruments that predict their utilization.
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The effect of the variant on RNA or protein purpose, depending on experimental proof from submitters.
There won't be any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, remember to look at distributing that information and facts to ClinVar.
Resetting your password working with the security concern you had been prompted to reply at registration is yet another way to get your password back again.
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