Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.N298fs
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COLQ

NM_005677.4:p.N298fs

Associated Papers

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

Wunderlich G et al.

Der Nervenarzt, 2019

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

Aharoni S et al.

Neuromuscular Disorders : Nmd, 2017

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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."