Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D264Y
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PCDH19

NM_001184880.2:p.D264Y

Associated Papers

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

De La Vega FM et al.

Genome Medicine, 2021

34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Zhu X et al.

Plos Genetics, 2017

29186148 (PubMed )
Supplement: pgen.1007104.s002.xlsx › S1_Table

Low-grade prostate cancer diverges early from high grade and metastatic disease.

VanderWeele DJ et al.

Cancer Science, 2014

24890684 (PubMed )
Supplement: cas0105-1079-SD1.xlsx › Table_S2
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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."