Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.N347fs
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PCDH19

NM_001184880.2:p.N347fs

Associated Papers

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.

Shibata M et al.

Journal of Human Genetics, 2021

33262389 (PubMed )
Supplement: 10038_2020_880_MOESM4_ESM.xlsx › Supplemental_Table_2

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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