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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPRL2

Variant:p.P68_V69del2

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NPRL2

NM_006545.5:p.P68_V69del2

hg38:chr3:50349796 ACACAGG>A

Associated Papers

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

Weckhuysen S et al.

Epilepsia, 2016

27173016 (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."