Varaico: Literature-Extracted Genetic Variants

Gene:TP53BP1
Variant:p.P449_P451del0
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TP53BP1

NM_005657.4:p.P449_P451del0

Associated Papers

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094

Rare deleterious mutations are associated with disease in bipolar disorder families.

Rao AR et al.

Molecular Psychiatry, 2017

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Lai Z et al.

Nucleic Acids Research, 2016

27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3

Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.

Nicolas E et al.

Oncotarget, 2015

26485759 (PubMed )
Supplement: oncotarget-06-39614-s005.xls › Nicolas_et_al.__Supp_Table_4

TP53-binding protein variants and breast cancer risk: a case-control study.

Frank B et al.

Breast Cancer Research : Bcr, 2005

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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."