Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.N288delFs
Back to variants list

COLQ

NM_080538.2:p.N288delFs

Associated Papers

COLQ-related congenital myasthenic syndrome: An integrative view.

Eshaghian T et al.

Neurogenetics, 2023

[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].

Wunderlich G et al.

Der Nervenarzt, 2019

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."