The best Side of slot thr777
The best Side of slot thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence adjustments on RNA splicing suggest that this variant may create or strengthen a splice website. In summary, the out there proof is at this time insufficient to find out the purpose of this variant in illness. For that reason, it's been classified to be a Variant of Unsure Significance. (less)
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Aberrant 5' splice web sites in human disease genes: mutation sample, nucleotide composition and comparison of computational equipment that predict their utilization.
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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to consider submitting that information and facts to ClinVar.
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