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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DOLK

Variant:p.F292_Q293del2

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DOLK

NM_014908.4:p.F292_Q293del2

hg38:chr9:128946424 TCTGGAA>T

Associated Papers

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Morava E et al.

Brain : a Journal of Neurology, 2010

20852264 (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."