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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASCC1

Variant:p.P289S

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ASCC1

NM_001198800.3:p.P289S

hg38:chr10:72133063 G>A

Associated Papers

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Zilmer M et al.

Brain : a Journal of Neurology, 2020

32293671 (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."