Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.C96delFs
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ITGA2B

NM_000419.5:p.C96delFs

Associated Papers

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia.

Losonczy G et al.

Haematologica, 2007

Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.

Jayo A et al.

Haematologica, 2006

A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia.

González-Manchón C et al.

Journal of Thrombosis and Haemostasis : Jth, 2003

A 1063G-->A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb.

Tao J et al.

British Journal of Haematology, 2000

A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia.

Tao J et al.

British Journal of Haematology, 2000

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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."