Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.K1395R
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PLEKHH2

NM_172069.4:p.K1395R

Associated Papers

Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation.

Serajee FJ et al.

Pediatric Neurology, 2015

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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."