Varaico: Literature-Extracted Genetic Variants

Gene:PTGS1
Variant:p.R113C
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PTGS1

NM_000962.4:p.R113C

Associated Papers

PTGS1 gene variations associated with bleeding and platelet dysfunction.

Palma-Barqueros V et al.

Platelets, 2021

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.

Chan MV et al.

Haematologica, 2021

A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.

Palma-Barqueros V et al.

American Journal of Hematology, 2021

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Leinøe E et al.

British Journal of Haematology, 2017

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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."