De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

ABSTRACT: Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. To this end, we investigated the effects of mutated CK2β by performing phosphor proteome profiling of patient derived LCLs along with the age and gender matched control.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Blood

DISEASE(S): Intellectual Disability

SUBMITTER: Proteomics Facility  

LAB HEAD: Muhammad Sajid Hussain

PROVIDER: PXD029983 | Pride | 2022-05-04

REPOSITORIES: Pride