Associated Papers
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).
Kaler SG et al.
Molecular Genetics and Metabolism Reports, 2020
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
26392352 (PubMed )
Supplement: 12881_2015_224_MOESM2_ESM.xlsx › ST2
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