Biallelic MAPKAPK5 pathogenic variants are associated with a distinct syndromic neurodevelopmental disorder with craniofacial, digital and neuroradiological abnormalities (2023)
Attributed to:
MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Type: Conference/Paper/Proceeding/Abstract
Volume: 31
Parent Publication: EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN: 1018-4813