Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.D407N
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COLQ

NM_005677.4:p.D407N

Associated Papers

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

Khaoula R et al.

Molecular Biology Reports, 2021

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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."