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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NBEAL2

Variant:p.R274C

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NBEAL2

NM_015175.3:p.R274C

hg38:chr3:46991583 C>T

Associated Papers

Gray Platelet Syndrome with Severe Thrombocytopenia: A Novel NBEAL2 Gene Variant from India.

Mevalegire Venkatagiri A et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2022

36258725 (PubMed )

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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."