Varaico: Literature-Extracted Genetic Variants

Gene:PRIMA1
Variant:p.Q31_V32Splc
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PRIMA1

NM_178013.4:p.Q31_V32Splc

Associated Papers

Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.

Yang Y et al.

Frontiers in Neurology, 2024

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

Hildebrand MS et al.

Annals of Clinical and Translational 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."