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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAP1L3

Variant:p.K249N

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NAP1L3

NM_004538.6:p.K249N

hg38:chrX:93672558 T>A

Associated Papers

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Depienne C et al.

Human Mutation, 2011

21053371 (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."