Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.G423delFs
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COLQ

NM_005677.4:p.G423delFs

Associated Papers

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.

Durmus H et al.

Neuromuscular Disorders : Nmd, 2018

Congenital myasthenic syndromes.

Hantaï D et al.

Current Opinion in Neurology, 2004

Congenital myasthenic syndromes: progress over the past decade.

Engel AG et al.

Muscle & Nerve, 2003

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.

Abicht A et al.

Brain : a Journal of Neurology, 2002

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Ohno K et al.

Current Neurology and Neuroscience Reports, 2002

Congenital myasthenic syndromes.

Engel AG et al.

Advances in Neurology, 2002

The spectrum of congenital myasthenic syndromes.

Engel AG et al.

Molecular Neurobiology, 0

Congenital myasthenic syndromes: A diverse array of molecular targets.

Engel AG et al.

Journal of Neurocytology, 0

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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."