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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSTB

Variant:p.H75insFs

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CSTB

NM_000100.4:p.H75insFs

hg38:chr21:43774275 T>TG

Associated Papers

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Topaloglu H et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2016

27647482 (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."