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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COLQ

Variant:p.Q333*

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COLQ

NM_080538.2:p.Q333*

hg38:chr3:15456507 G>A

Associated Papers

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

Wunderlich G et al.

Der Nervenarzt, 2019

29974128 (PubMed )

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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."