Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.M1L
Back to variants list

GLUL

NM_001033044.4:p.M1L

Associated Papers

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.

Oh DE et al.

Scientific Reports, 2025

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

Jones AG et al.

American Journal of Human Genetics, 2024

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."