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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHKA2

Variant:p.I51insFs

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PHKA2

NM_000292.3:p.I51insFs

hg38:chrX:18954339 A>AT

Associated Papers

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

Szafranski P et al.

European Journal of Human Genetics : Ejhg, 2015

25315662 (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."