Accession | PRJCA000903 |
---|---|
Title | pathogenic mutation identification in SPD family |
Relevance | Medical |
Data types | Exome |
Organisms | Homo sapiens |
Description | we collected a large family with synpolydactyly. The causative mutation in this family was still unknown. Therefore, to identify the pathogenic mutation, we performed whole exome sequencing on 6 members of this family. |
Sample scope | Monoisolate |
Release date | 2019-08-07 |
Submitter | Ye Du (duye0208@126.com) |
Organization | The people's hospital of Longhua |
Submission date | 2018-06-06 |