ID
45525
Descripción
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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Versiones (1)
- 14/12/2022 14/12/2022 - Simon Heim
Titular de derechos de autor
Wendy Raskind, University of Washington, Seattle, WA, USA
Subido en
14 décembre 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders
Eligibility Criteria
- StudyEvent: SEV1
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Eligibility Criteria
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