Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.Q272*
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PCDH19

NM_001184880.2:p.Q272*

Associated Papers

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

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler KM et al.

Pediatric Neurology, 2017

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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."