Additional file 1 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort
收藏NIAID Data Ecosystem2026-03-13 收录
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Additional file 1: Supplementary Table S1. Table S1: Details of clinical and molecular findings of the study cases. No OMIM phenotype*: Phenotype is not listed in OMIM. Likely pathogenic*: Upgraded to likely pathogenic using ClinGen criteria. Negative*: A case with liver cirrhosis and F7 deficiency, the cause of liver cirrhosis is not identified. CGM: local ES database. NA: Unsolved cases. a: Novel gene or variant to be published separately.
创建时间：
2021-10-13
