Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.K795_V796Splc
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BUB1B

NM_001211.6:p.K795_V796Splc

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.

Terradas M et al.

Journal of Clinical Medicine, 2020

Germline mutation contribution to chromosomal instability.

Chan SH et al.

Endocrine-related Cancer, 2017

Detectable clonal mosaicism in the human genome.

Machiela MJ et al.

Seminars in Hematology, 2013

Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

Rio Frio T et al.

The New England Journal of Medicine, 2010

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