Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.T1216fs
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BCOR

NM_017745.6:p.T1216fs

Associated Papers

Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium.

Engvall M et al.

Leukemia & Lymphoma, 2022

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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."