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Paper Details

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
J Neurol
2
2023
Author NameAffiliation
Stephan Z??chnerDr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine
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Datasets

Release 1.2