Accession PRJCA000917
Title PUMCH-Novo WES project
Relevance Medical
Data Types Exome
Organisms Homo sapiens
Description PUMCH Neurology-Novogene WES project for patients
Sample scope Monoisolate
Release date 2018-06-22
PubMed ID Article title Journal name DOI Year
30450679 Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy Journal of Cellular and Molecular Medicine 10.1111/jcmm.13979 2018
Submitter Yi    Dai  (
Organization Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College
Submission date 2018-06-22

Project Data

Resource name Description
BioSample (1) -
SAMC043954 PUMCH-Novo WES project
GSA (1) -
CRA000997 DAG1-HAJ-WES-Data