Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.S205fs
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PCDH19

NM_001184880.2:p.S205fs

Associated Papers

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Kolc KL et al.

Translational Psychiatry, 2020

32366910 (PubMed )
Supplement: 41398_2020_803_MOESM5_ESM.pdf
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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."