Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.T169fs
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PCDH19

NM_001184880.2:p.T169fs

Associated Papers

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Ding J et al.

Frontiers in Neurology, 2022

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Specchio N et al.

Epilepsia, 2011

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

Marini C et al.

Neurology, 2010

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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."