Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D212H
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PCDH19

NM_001184880.2:p.D212H

Associated Papers

Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?

Marques P et al.

Epilepsy Research, 2024

Tiered analysis of whole-exome sequencing for epilepsy diagnosis.

Dunn PJ et al.

Molecular Genetics and Genomics : Mgg, 2020

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

Stosser MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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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."