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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COLQ

Variant:p.G125delFs

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COLQ

NM_080539.4:p.G125delFs

hg38:chr3:15475475 CA>C

Associated Papers

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers.

Mohammadi MF et al.

Clinical Case Reports, 2023

37881193 (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."