Associated Papers
Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.
Zamora-Cánovas A et al.
Biomolecules, 2025
41463295 (PubMed )
Supplement: biomolecules-15-01639-s001.zip › biomolecules-3972089-supplementary.pdf
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
P2Y₁₂ receptor gene mutations associated with bleeding.
Scavone M et al.
Platelets, 2017
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.
Jones ML et al.
Thrombosis and Haemostasis, 2015
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