Associated Papers
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
30061496 (PubMed )
Supplement: ijms-19-02218-s001.zip › supplementary_file_3.xlsx › Sheet1
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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