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Paper Details

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Parkinsonism Relat Disord
7
2021
C19orf12, C19orf12 isoform, C19orf12 variants, MPAN, MPAN), Mitochondria membrane protein-associated neurodegeneration (, mitochondrial membrane protein-associated neurodegeneration, neurodegenerative disorder
Author NameAffiliation
Jennifer E PoseyBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
James R LupskiBaylor College of Medicine, 77030 Texas Children's Hospital
James R LupskiBaylor College of Medicine, 77030 Texas Children's Hospital
Emma L BapleUniversity of Exeter Medical School, UK Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital
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Release 1.2