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Paper Details

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
11
2023
Author NameAffiliation
Benjamin P KleinstiverCenter for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School
Benjamin P KleinstiverMassachusetts General Hospital
Benjamin P KleinstiverHarvard Medical School
Heidi CopeDuke University School of Medicine
Rebecca C SpillmannDuke University School of Medicine
Hugo J BellenBaylor College of Medicine
Hugo J BellenJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Hugo J BellenBaylor College of Medicine
Hugo J BellenJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
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Datasets

Release 1.2