Additional file 1 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Lethal_variants_in_humans_lessons_learned_from_a_large_molecular_autopsy_cohort/16807777/1
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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.
提供机构：
Maddirevula, Sateesh; Abuyousef, Omar; Abdulwahab, Firdous; Shamseldin, Hanan E.; Alkuraya, Fowzan S.; Hashem, Mais; AlAbdi, Lama; Alzahrani, Fatema; Ewida, Nour; Gao, Xin; Alsaif, Hessa S.; Kuwahara, Hiroyuki
创建时间：
2021-10-14
