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1 . Academic Journal
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
저자
by
Pilar Mur
;
Julen Viana-Errasti
;
Sandra García-Mulero
;
Lorena Magraner-Pardo
;
Inés G. Muñoz
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
저자
by
Christopher Hakkaart
;
John F. Pearson
;
Louise Marquart
;
Joe Dennis
;
George A. R. Wiggins
, et al.
소스
Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters
저자
by
Josu Aguirre
;
Natàlia Padilla
;
Selen Özkan
;
Casandra Riera
;
Lídia Feliubadaló
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11872 (2023)
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7 . Academic Journal
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
저자
by
Paula Rofes
;
Marta Pineda
;
Lídia Feliubadaló
;
Mireia Menéndez
;
Rafael de Cid
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
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7 . Academic Journal
BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
저자
by
Paula Rofes
;
Jesús Del Valle
;
Sara Torres-Esquius
;
Lídia Feliubadaló
;
Agostina Stradella
, et al.
소스
Genes, Vol 12, Iss 2, p 150 (2021)
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7 . Academic Journal
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
저자
by
Kate Lawrenson
;
Siddhartha Kar
;
Karen McCue
;
Karoline Kuchenbaeker
;
Kyriaki Michailidou
, et al.
소스
Nature Communications, Vol 7, Iss 1, Pp 1-22 (2016)
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7 . Academic Journal
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients
저자
by
Jesús del Valle
;
Paula Rofes
;
José Marcos Moreno-Cabrera
;
Adriana López-Dóriga
;
Sami Belhadj
, et al.
소스
Cancers, Vol 12, Iss 4, p 829 (2020)
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7 . Academic Journal
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
저자
by
Elena Vigorito
;
Karoline B Kuchenbaecker
;
Jonathan Beesley
;
Julian Adlard
;
Bjarni A Agnarsson
, et al.
소스
PLoS ONE, Vol 11, Iss 7, p e0158801 (2016)
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7 . Academic Journal
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
저자
by
Ignacio Blanco
;
Karoline Kuchenbaecker
;
Daniel Cuadras
;
Xianshu Wang
;
Daniel Barrowdale
, et al.
소스
PLoS ONE, Vol 10, Iss 4, p e0120020 (2015)
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7 . Academic Journal
Functional and structural analysis of C-terminal BRCA1 missense variants.
저자
by
Francisco Quiles
;
Juana Fernández-Rodríguez
;
Roberto Mosca
;
Lídia Feliubadaló
;
Eva Tornero
, et al.
소스
PLoS ONE, Vol 8, Iss 4, p e61302 (2013)
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