Browsing Department of Biomedicine by Journals "Molecular Genetics & Genomic Medicine"
Now showing items 1-1 of 1
-
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene
(Journal article; Peer reviewed, 2022)Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear ...