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.

Link

dbGaP study = phs000707

Palabras clave

  1. 14/12/22 14/12/22 - Simon Heim
Titular de derechos de autor

Wendy Raskind, University of Washington, Seattle, WA, USA

Subido en

14 de diciembre de 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

Sample - Attribute Information

pht003717
Descripción

pht003717

Alias
UMLS CUI [1,1]
C3846158
De-identified Sample ID
Descripción

SAMPID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Descripción

BODY_SITE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Descripción

ANALYTE_TYPE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C4744818

Similar models

Sample - Attribute Information

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht003717
C3846158 (UMLS CUI [1,1])
SAMPID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])

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