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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUBCN

Variant:p.S49P

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RUBCN

NM_014687.4:p.S49P

hg38:chr3:197718051 A>G

Associated Papers

Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis).

Roussel BD et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2016

27618835 (PubMed )

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