Details, Fiction and login thr777
Details, Fiction and login thr777
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Stars symbolize the review standing, or the level of evaluation supporting the submitted (SCV) record. This worth is calculated by NCBI determined by details within the submitter.
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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to contemplate distributing that information and facts to ClinVar.
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The amount of variants in ClinVar for this gene, which includes more compact variants inside the gene and larger CNVs that overlap or absolutely comprise the gene.
03%). This variant hasn't been described while in the literature in men and women impacted with GAA-associated conditions. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the outcome of sequence adjustments on RNA splicing propose this variant may well generate or bolster a splice website. In summary, the accessible evidence is now inadequate to ascertain the role of the variant in ailment. For that reason, it has been classified like a Variant of Unsure Significance. Alright
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These citations are identified by LitVar using the rs number, so They could include citations for multiple variant at this locale. You should evaluate the LitVar success diligently for your personal variant of fascination. File previous up to date May well 12, 2024
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