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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHACTR1

Variant:p.R514W

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PHACTR1

NM_030948.6:p.R514W

hg38:chr6:13283452 C>T

Associated Papers

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

Marakhonov AV et al.

Clinical Genetics, 2021

33463715 (PubMed )

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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."