Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.K638Splc
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ITGB3

NM_000212.3:p.K638Splc

Associated Papers

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome.

Lee J et al.

Annals of Laboratory Medicine, 2024

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).

Yang EJ et al.

Genes, 2021

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.

Ross JE et al.

Blood Advances, 2021

Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.

Park KJ et al.

Pediatric Blood & Cancer, 2012

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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."