Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.R46K
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TUBB1

NM_030773.4:p.R46K

Associated Papers

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

Guéguen P et al.

Transfusion, 2020

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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."