Associated Papers
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
41695778 (PubMed )
Supplement: Table1.xlsx › Sheet1
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
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