Accession PRJCA004061
Title Diagnostic Challenges in CMMRD
Relevance Medical
Data types Variation
Organisms Homo sapiens
Description a Novel Mutation in the PMS2 Gene in Constitutional mismatch repair deficiency (CMMRD)
Sample scope Multiisolate
Release date 2020-12-17
PubMed ID Article title Journal name DOI Year
34247610 Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report BMC Medical Genomics 10.1186/s12920-021-01031-9 2021
Agency program Grant ID Grant title
the Department of Science and Technology of Liaoning Province 2019-ZD-0913
Submitter Li    Ying  (
Organization The Second Hospital of Dalian Medical University
Submission date 2020-12-17

Project Data

Resource name Description
BioSample (3) -
SAMC1565891 LBH9373N_H77FWDSXX
SAMC1565887 LBH9375N_H77FWDSXX
SAMC1565883 LBH7126T_HNC73CCXY