Associated Papers
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
Thuriot F et al.
Journal of Clinical Medicine, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
33717985 (PubMed )
Supplement: mmc1.xlsx › Table_S1
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