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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAN2A1

Variant:p.E756Q

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MAN2A1

NM_002372.4:p.E756Q

hg38:chr5:109819825 G>C

Associated Papers

A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.

Burnett JR et al.

The Journal of Biological Chemistry, 2003

12551903 (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."