Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R88*
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ITGB3

NM_000212.3:p.R88*

Associated Papers

Proteomic analysis indicates lower abundance of platelet α-granule proteins in Glanzmann thrombasthenia.

Zivkovic M et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s10.xls › S9-Cell_line_mutations

Atomic force microscopy-based molecular recognition of a fibrinogen receptor on human erythrocytes.

Carvalho FA et al.

Acs Nano, 2010

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).

Peretz H et al.

Human Mutation, 2006

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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."