Clara
Ruiz Ponte
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Hospital Universitario 12 de Octubre
Madrid, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (9)
2024
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2021
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A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
Clinical chemistry, Vol. 67, Núm. 3, pp. 518-533
2017
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Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome
PLoS ONE, Vol. 12, Núm. 11
2014
2013
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Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility
PLoS ONE, Vol. 8, Núm. 9
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Risk of cancer in cases of suspected lynch syndrome without germline mutation
Gastroenterology, Vol. 144, Núm. 5
2012
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COGENT (COlorectal cancer GENeTics) revisited
Mutagenesis, Vol. 27, Núm. 2, pp. 143-151