Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.I909T
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BUB1B

NM_001211.6:p.I909T

Associated Papers

BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.

Sieben CJ et al.

The Journal of Clinical Investigation, 2020

The vertebrate mitotic checkpoint protein BUBR1 is an unusual pseudokinase.

Suijkerbuijk SJ et al.

Developmental Cell, 2012

Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.

Suijkerbuijk SJ et al.

Cancer Research, 2010

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.

García-Castillo H et al.

American Journal of Medical Genetics. Part A, 2008

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Hanks S et al.

Nature Genetics, 2004

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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."