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  1. Sep 2021
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant
    1
    1. abbylecker 08 Sep 2021
      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/

      individual MTHFR heterozygous ClinVarID:187891
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    pubmed.ncbi.nlm.nih.gov/23526309/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Somatic mutations reveal asymmetric cellular dynamics in the early human embryo
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    1. abbylecker 07 Sep 2021
      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.

      #whole-genome
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    ncbi.nlm.nih.gov/pmc/articles/PMC6169740/