five

Report of rare variants detected.

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NIAID Data Ecosystem2026-03-08 收录
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https://figshare.com/articles/dataset/_Report_of_rare_variants_detected_/1499785
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资源简介:
NA: DNA not available from relatives. IP: Incomplete penetrance. CM: Human gene variation database code. MAF: Minor allele frequency in the NHLBI Exome Sequencing Project (ESP). LOVD ID: Submission ID on Leiden Open Variation Database. EA: European American population. AA: African American population. Last revised January 2015. Predictors: C: Condel; MT: Mutation Taster; PPH2: Polyphen; Prov: Provean. N:N eutral; D: Deleterious; P: Polymorphism; DC: Disease causing; B: Benign; PD: Possibly_Damaging pathogenicity score based in Campuzano et al. score [9] and applied to BrS. VUS: Variant of uncertain significance.
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2015-12-03
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