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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NBEAL2

Variant:p.L1866delFs

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NBEAL2

NM_015175.3:p.L1866delFs

hg38:chr3:47003185 CT>C

Associated Papers

Look for the Colour: Gray Platelets - A Rare Bleeding Disorder.

Gujula YJ et al.

Ejifcc, 2025

40584986 (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."