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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENPP2

Variant:p.V185L

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ENPP2

NM_001040092.3:p.V185L

hg38:chr8:119617490 C>G

Associated Papers

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population.

Peng Y et al.

Frontiers in Neurology, 2018

30619065 (PubMed )

Supplement: Data_Sheet_1.PDF

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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."