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clinvar_ps1_blb.csv

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DataCite Commons2025-04-01 更新2024-08-18 收录
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https://figshare.com/articles/dataset/clinvar_ps1_blb_csv/19426973/1
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资源简介:
A table of ClinVar variant pairs with PS1 evidence, where one variant is classified as B/LB (b, lb, or b/lb) and the other is classified as VUS (uncertain, conflicting, not provided). All ClinVar columns are included, and documentation for additional columns can be found in "Non-ClinVar Column Descriptions". The columns of B/LB variants are preceded by "blb_" and those of VUS variants are preceded by "vus_". Missing data is marked with "-".<br> <em>Note:</em> This list is based on a criteria analogous to PS1 for the benign classification, although this is not an ACMG/AMP evidence tier.
提供机构:
figshare
创建时间:
2022-07-05
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