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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMGNT1

Variant:p.A200P

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POMGNT1

NM_017739.4:p.A200P

hg38:chr1:46194898 C>G

Associated Papers

Abnormal glycosylation of dystroglycan in human genetic disease.

Hewitt JE

Biochimica Et Biophysica Acta, 2009

19539754 (PubMed )

Physical and functional association of human protein O-mannosyltransferases 1 and 2.

Akasaka-Manya K et al.

The Journal of Biological Chemistry, 2006

16698797 (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."