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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS11

Variant:p.V11D

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VPS11

NM_021729.6:p.V11D

hg38:chr11:119067855 T>A

Associated Papers

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.

Hörtnagel K et al.

Journal of Inherited Metabolic Disease, 2016

27473128 (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."