Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.R198_T200delFs
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PCDH19

NM_001184880.2:p.R198_T200delFs

Associated Papers

Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.

de Nys R et al.

International Journal of Molecular Sciences, 2021

34575929 (PubMed )
Supplement: ijms-22-09769-s001.zip › ijms-1359787-supplementary.xlsx › Supplimentary_References

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_MOESM7_ESM.docx
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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."