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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAFAH1B1

Variant:p.P309S

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PAFAH1B1

NM_000430.4:p.P309S

hg38:chr17:2676529 C>T

Associated Papers

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Gutiérrez-Delicado E et al.

Pediatric Neurology, 2025

39631264 (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."