Varaico: Literature-Extracted Genetic Variants

Gene:SPEN
Variant:p.Q743*
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SPEN

NM_015001.3:p.Q743*

Associated Papers

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Scheiter A et al.

Journal of Personalized Medicine, 2022

Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.

Xu B et al.

Cold Spring Harbor Molecular Case Studies, 2020

33008833 (PubMed )
Supplement: supp_mcs.a005629_Supplemental_Files_1-5.pdf

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

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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."