Varaico: Literature-Extracted Genetic Variants

Gene:PTGS1
Variant:p.W8R
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PTGS1

NM_000962.4:p.W8R

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.

Schmitt M et al.

Cancers, 2021

34771574 (PubMed )
Supplement: cancers-13-05411-s001.zip › cancers-1421686_Table_S4.xlsx › Sheet_1

Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.

Fonseca DJ et al.

Pharmacogenomics and Personalized Medicine, 2021

Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.

Nance D et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas.

Montazeri Z et al.

International Journal of Epidemiology, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A08F-01A.domain

Novel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomalies.

Coskun I et al.

Genetics and Molecular Research : Gmr, 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s012.xlsx › all_drug.csv

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

Küry S et al.

Bmc Cancer, 2008

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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."