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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENPP2

Variant:p.H434insFs

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ENPP2

NM_001040092.3:p.H434insFs

hg38:chr8:119586250 A>AG

Associated Papers

Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.

Felício D et al.

Cerebellum (london, England), 2024

36892783 (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."