Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.Y141C
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ITGB3

NM_000212.3:p.Y141C

Associated Papers

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

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3.

Siddiqi MYJ et al.

Cells, 2023

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

Ali T et al.

International Journal of Laboratory Hematology, 2020

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 2018

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

Kulkarni BP et al.

Plos One, 2014

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.

Kannan M et al.

Journal of Thrombosis and Haemostasis : Jth, 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."