Accession PRJCA017948
Title mutation of MIP
Relevance Medical
Data types Variation
Organisms Homo sapiens
Description A novel single-base deletional mutation of MIP (c.301delG; p.Ala101Profs*16) segregated with congenital punctate cataract in a Chinese family.
Sample scope Multiisolate
Release date 2023-07-21
Grants
Agency program Grant ID Grant title
National Natural Science Foundation of China (NSFC) Young Scientists Fund 81900840 PRMT3 mutations target p53/ Caspase-3-mediated lens cell proliferation abnormalities Study on the mechanism of natural cataract
Submitter yinhui yu (yuyinhui5407@163.com)
Organization The Second Affiliated Hospital, Zhejiang University School of Medicine
Submission date 2023-06-27

Project Data

Resource name Description