Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.G246delFs
Back to variants list

COLQ

NM_005677.4:p.G246delFs

Associated Papers

COLQ-related congenital myasthenic syndrome: An integrative view.

Eshaghian T et al.

Neurogenetics, 2023

Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.

Shao S et al.

Current Neuropharmacology, 2023

36703579 (PubMed )
Supplement: CN-21-1594_SD1.pdf

First characterization of congenital myasthenic syndrome type 5 in North Africa.

Khaoula R et al.

Molecular Biology Reports, 2021

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V et al.

Brain : a Journal of Neurology, 2008

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."