Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.N509S
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PCDH19

NM_001184880.2:p.N509S

Associated Papers

BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.

Roohollahi K et al.

Scientific Reports, 2022

34997070 (PubMed )
Supplement: 41598_2021_4042_MOESM2_ESM.xlsx › Supp.File.1

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

Niazi R et al.

Human Mutation, 2019

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Bagnall RD et al.

Annals of Neurology, 2016

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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."