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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCDH19

Variant:p.P344_V345del2

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PCDH19

NM_001184880.2:p.P344_V345del2

hg38:chrX:100407562 TGACCGG>T

Associated Papers

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

Chen Y et al.

Frontiers in Neurology, 2022

36408521 (PubMed )

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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."