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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCDH19

Variant:p.N559_P561Fs

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PCDH19

NM_001184880.2:p.N559_P561Fs

hg38:chrX:100406916 GGGGTGT>CGCACC

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

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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."