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.
Link
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
To request one please log in.
License
Creative Commons BY 4.0
Model comments :
You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.
Itemgroup comments for :
Item comments for :
In order to download data models you must be logged in. Please log in or register for free.
dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders
Subject - Sample Mapping - Sample Use
- StudyEvent: SEV1
Similar models
Subject - Sample Mapping - Sample Use
- StudyEvent: SEV1
C2348585 (UMLS CUI [1,2])
C1299222 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C4684638 (UMLS CUI [1,3])
C0752046 (UMLS CUI [1,2])
C3640077 (UMLS CUI [1,3])