Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.S123P
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ITGB3

NM_000212.3:p.S123P

Associated Papers

Congenital platelet disorders and understanding of platelet function.

Nurden AT et al.

British Journal of Haematology, 2014

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.

Nurden AT et al.

Blood, 2011

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Jallu V et al.

Human Mutation, 2010

Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.

Nelson EJ et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient.

Nair S et al.

Haematologica, 2004

Prenatal diagnosis of Glanzmann thrombasthenia.

Srivastava A et al.

The National Medical Journal of India, 0

Glanzmann's thrombasthenia: an overview.

Kannan M et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

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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."