Varaico: Literature-Extracted Genetic Variants

Gene:DPH7
Variant:p.P275L
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DPH7

NM_138778.5:p.P275L

Associated Papers

MAN1B1 deficiency: an unexpected CDG-II.

Rymen D et al.

Plos Genetics, 2013

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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."