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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V0D2

Variant:p.D217N

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ATP6V0D2

NM_152565.1:p.D217N

hg38:chr8:86150121 G>A

Associated Papers

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

Desai A et al.

Bmc Musculoskeletal Disorders, 2016

26879370 (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."