ID
45525
Description
Principal Investigator: Wendy Raskind, University of Washington, Seattle, WA, USA MeSH: Nervous System Diseases,Ataxia,Charcot-Marie-Tooth Disease,Dyskinesia, Familial, with Facial Myokymia,Dystonia,Hereditary Sensory and Motor Neuropathy,Parkinsonian Disorders,Spinocerebellar Ataxias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000707 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with hereditary neurologic disorders of unknown cause.
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Keywords
Versions (1)
- 12/14/22 12/14/22 - Simon Heim
Copyright Holder
Wendy Raskind, University of Washington, Seattle, WA, USA
Uploaded on
December 14, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders
Sample - Attribute Information
- StudyEvent: SEV1
Similar models
Sample - Attribute Information
- StudyEvent: SEV1
C1299222 (UMLS CUI [1,2])