Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.V323fs
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BRCA2

NM_000059.4:p.V323fs

Associated Papers

Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.

Walsh RJ et al.

Frontiers in Oncology, 2024

38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1

Correlation between the number of false positive variants and the quality of results using Ion Torrent PGM™ sequencing to screen BRCA genes.

Gouvêa Moreira TC et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2021

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ENIGMA

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
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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."