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 |
Publication |
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 (pumchdy@pumch.cn)
|
Organization |
Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College |
Submission date |
2018-06-22 |