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Paper Details

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Ann Clin Transl Neurol
1
2021
Dreifuss muscular dystrophy, EMD, EMD splice, Emery-, NM_000117.3: c.188-6A, emerin, emerin protein, muscular dystrophy, patients, rare disease
Author NameAffiliation
Zeynep Coban AkdemirBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
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Release 1.2