Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR1
Variant:p.N479I
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PHACTR1

NM_030948.6:p.N479I

Associated Papers

Neuroendocrine Control of Synaptic Transmission by PHAC-1 in C. elegans.

Stratigi A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

Genotype and phenotype correlation of PHACTR1-related neurological disorders.

Xu Z et al.

Journal of Medical Genetics, 2024

Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants.

Previtali R et al.

Frontiers in Neurology, 2023

Epileptic Encephalopathy with Variants in the PHACTR1 and AFF2 Genes: A Case Report.

Suarez-Mendez ML et al.

Cytogenetic and Genome Research, 2022

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Marakhonov AV et al.

Clinical Genetics, 2021

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.

Hamada N et al.

Brain : a Journal of Neurology, 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."