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Image Search Results
Journal: Molecular Genetics and Metabolism Reports
Article Title: Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database
doi: 10.1016/j.ymgmr.2021.100734
Figure Lengend Snippet: Genetic variants in gnomAD, ClinVar (including ClinGen), Pompe DB, or Pompe registry. (A) All genetic variants in the ClinVar, Pompe DB, or Pompe registry. The number in parentheses gives the number of genetic variants found in ClinGen. (B) Comparison of PLPVs in gnomAD and genetic variants in ClinVar, Pompe DB, or Pompe registry. The red color number in parentheses gives the number of PLPVs classified by ClinGen. All LSDBs were accessed December 15, 2020.
Article Snippet: Genetic variants in the GAA gene in the
Techniques: Comparison