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

Project Data

Resource name Description
BioSample (6)  show -
GSA (1) -
CRA000972 SPD