Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.K64*
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PAFAH1B1

NM_000430.4:p.K64*

Associated Papers

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Mayo S et al.

International Journal of Molecular Sciences, 2022

Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing.

Ye Z et al.

Annals of Neurology, 2021

Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.

Kim S et al.

Annals of Neurology, 2021

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.

Ye Z et al.

Brain Communications, 2021

Brain Somatic Mutations in Epileptic Disorders.

Koh HY et al.

Molecules and Cells, 2018

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.

Damiano JA et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2017

Somatic mutations in cerebral cortical malformations.

Jamuar SS et al.

The New England Journal of Medicine, 2014

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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."