Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.N270K
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PCDH19

NM_001184880.2:p.N270K

Associated Papers

Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.

Chen J et al.

Journal of Human Genetics, 2023

PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.

Chen Y et al.

Frontiers in Neurology, 2022

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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."