Varaico: Literature-Extracted Genetic Variants

Gene:ADAM22
Variant:p.E859fs
Back to variants list

ADAM22

NM_021723.5:p.E859fs

Associated Papers

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.

Nosková L et al.

Brain Communications, 2023

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

van der Knoop MM et al.

Brain : a Journal of Neurology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."