Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R268delFs
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WAS

NM_000377.3:p.R268delFs

Associated Papers

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

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM et al.

Haematologica, 2018

Diagnosis of inherited bleeding disorders in the genomic era.

Sivapalaratnam S et al.

British Journal of Haematology, 2017

Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.

Bastida JM et al.

Platelets, 2017

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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."