Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.T1454M
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NBEAL2

NM_015175.3:p.T1454M

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

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 comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Johnson B et al.

Research and Practice in Thrombosis and Haemostasis, 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."