Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.N169delFs
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EFNB1

NM_004429.5:p.N169delFs

Associated Papers

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Depienne C et al.

Plos Genetics, 2009

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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."