Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.G40E
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GP1BB

NM_000407.5:p.G40E

Associated Papers

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Willems SPE et al.

Research and Practice in Thrombosis and Haemostasis, 2024

39076726 (PubMed )
Supplement: mmc2.xlsx › Blad1

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Marconi C et al.

Haematologica, 2023

36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS4_SUPPL.xlsx › Foglio1

Genomic classification of benign adrenocortical lesions.

Faillot S et al.

Endocrine-related Cancer, 2021

33151900 (PubMed )
Supplement: supplementary_table_3.xlsx › Sup3__Somatic_mutations_Exome_

Drug-Sensitivity Screening and Genomic Characterization of 45 HPV-Negative Head and Neck Carcinoma Cell Lines for Novel Biomarkers of Drug Efficacy.

Lepikhova T et al.

Molecular Cancer Therapeutics, 2018

29970484 (PubMed )
Supplement: 15357163mct170733-sup-187271_3_supp_4755361_p8plbf.xlsx › Table_S5

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM et al.

Haematologica, 2018

Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia.

Jallu V et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.

Guz K et al.

Polish Archives of Internal Medicine, 2017

Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.

Bragadottir G et al.

American Journal of Hematology, 2015

Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.

Xu X et al.

Vox Sanguinis, 2009

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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."