Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.F71C
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GP9

NM_000174.5:p.F71C

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

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

Romasko EJ et al.

American Journal of Hematology, 2018

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A et al.

Human Mutation, 2014

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

Kulkarni BP et al.

Plos One, 2014

Molecular basis of Bernard-Soulier syndrome in 27 patients from India.

Sumitha E et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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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."