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

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."