Journal of Neurology · 2019 · 53 citations · 24 references
Distal Muscle WeaknessRare DiseasesChinese FamilyGenetic DisorderGeneticsPrion-like DomainDegenerative DiseasePrion DiseaseMolecular GeneticsDisease Gene IdentificationSystems BiologyMedicine
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A map of human genome variation from population-scale sequencing
Volker Straub, Alexander P. Murphy, Bjarne Udd et al. · Neuromuscular Disorders · 2018 · 372 citations · Full text
Phenotypic expansion illuminates multilocus pathogenic variation
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