Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.R83*
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CBFB

NM_022845.3:p.R83*

Associated Papers

A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.

Pagnamenta AT et al.

Clinical Genetics, 2025

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

Beyltjens T et al.

Journal of Medical Genetics, 2023

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM4_ESM.xlsx › MEGA_MAF_2-1-13_full_clinical_T

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.

Ross JS et al.

Cancer, 2016

Sequence analysis of mutations and translocations across breast cancer subtypes.

Banerji S et al.

Nature, 2012

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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."