link alternatif thr777 - An Overview
link alternatif thr777 - An Overview
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So this date can be various through the date on the “newest submission” claimed at the best of the page. Aid Comply with NCBI
Stars signify the aggregate review standing, or the level of evaluate supporting the combination germline classification for this VCV file.
Aberrant five' splice internet sites in human condition genes: mutation sample, nucleotide construction and comparison of computational applications that predict their utilization.
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This day represents the last time this VCV record was updated. The update may be as a consequence of an update to among the list of involved submitted records (SCVs), or resulting from an update that ClinVar produced to the variant for example adding HGVS expressions or possibly a rs range.
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03%). This variant has not been reported from the literature in men and women affected with GAA-linked circumstances. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the result of sequence changes on RNA splicing propose this variant might generate or strengthen a splice internet site. In summary, the available evidence is at present inadequate to ascertain the position of the variant in disease. slot thr777 As a result, it's been categorised as a Variant of Uncertain Significance. Okay