Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR1
Variant:p.R64G
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PHACTR1

NM_030948.6:p.R64G

Associated Papers

Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy.

Willième K et al.

Clinical Genetics, 2025

Genotype and phenotype correlation of PHACTR1-related neurological disorders.

Xu Z et al.

Journal of Medical Genetics, 2024

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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."