Varaico: Literature-Extracted Genetic Variants

Gene:PRKCH
Variant:p.H211R
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PRKCH

NM_006255.5:p.H211R

Associated Papers

Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

Harvey DC et al.

Frontiers in Cardiovascular Medicine, 2023

37840956 (PubMed )
Supplement: Table1.xlsx › Supp_Table_1

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2

MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.

Cai W et al.

Bmc Genomics, 2018

30075702 (PubMed )
Supplement: 12864_2018_4958_MOESM5_ESM.xlsx › Supplementary_Figure_4

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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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."