Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T333N
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BRCA1

NM_007294.4:p.T333N

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.

Wu Z et al.

Bmc Cancer, 2024

38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.

Chau SL et al.

Cancers, 2020

32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S7
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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."