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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C1GALT1

Variant:p.E248K

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C1GALT1

NM_020156.5:p.E248K

hg38:chr7:7238776 G>A

Associated Papers

Clinic implication of MUC1 O-glycosylation and C1GALT1 in esophagus squamous cell carcinoma.

Wang Y et al.

Science China. Life Sciences, 2018

30076562 (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."