Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE1
Variant:p.E185K
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PRICKLE1

NM_153026.3:p.E185K

Associated Papers

A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.

Algahtani H et al.

Seizure, 2019

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

Cukier HN et al.

Molecular Autism, 2014

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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."