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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BUB1B

Variant:p.E166_R169delFs

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BUB1B

NM_001211.6:p.E166_R169delFs

hg38:chr15:40176588 GAAAACTTT>G

Associated Papers

Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome.

Laberko A et al.

Orphanet Journal of Rare Diseases, 2019

31053147 (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."