Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.R893S
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BUB1B

NM_001211.6:p.R893S

Associated Papers

Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.

Esposito M et al.

International Journal of Legal Medicine, 2024

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Pavone P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."