The smart Trick of link thr777 That No One is Discussing
The smart Trick of link thr777 That No One is Discussing
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence variations on RNA splicing advise that this variant might develop or improve a splice web page. In summary, the available proof is now inadequate to ascertain the position of this variant in disease. Hence, it's been classified as being a Variant of Unsure Significance. Alright
These citations are discovered by LitVar using the rs range, so they may involve citations for more than one variant at this locale. Be sure to critique the LitVar benefits very carefully for the variant of curiosity. Document past up to date May 19, 2024
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This day represents the final time this VCV file was up-to-date. The update can be as a result of an update to among the integrated submitted documents (SCVs), or as a consequence of an update that ClinVar manufactured into the variant for example adding HGVS expressions or possibly a rs selection.
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There isn't a purposeful evidence in ClinVar for this variation. In case you have created useful data for this variation, please look at submitting that facts to ClinVar.