Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.C33R
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GP1BA

NM_000173.7:p.C33R

Associated Papers

Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.

Zhang S et al.

Hematology (amsterdam, Netherlands), 2024

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

Skalníková M et al.

International Journal of Molecular Sciences, 2022

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.

Ma J et al.

Experimental and Therapeutic Medicine, 2021

Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.

Wang Q et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

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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."