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  1. Sep 2021
    1. thermolabile variant of methylene-tetrahydrofolate reductase

      Case: young adult, Korean GeneName: MTHFR HGNCgeneID: ArticleID: 23526309 InheritencePattern: No inheritance pattern DiseaseEntity: Hyperhomocysteinemia, strokes Mutation: Germline Zygosity: Homozygous ClinVarID: 187891, www.ncbi.nlm.nih.gov/clinvar/variation/187891/

    1. To identify early embryonic base substitutions, we analysed whole-genome sequences of blood samples from 279 individuals with breast cancer (mean sequencing coverage 32-fold; Supplementary Table 1) seeking mutations with VAFs ranging from 10% to 35%

      This is what the research is studying.