Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE1
Variant:p.A274T
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PRICKLE1

NM_153026.3:p.A274T

Associated Papers

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Mastrangelo M et al.

Frontiers in Neurology, 2022

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

PRICKLE1-related early onset epileptic encephalopathy.

Mastrangelo M et al.

American Journal of Medical Genetics. Part A, 2018

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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."