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In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.
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OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.
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Biomedicines, 2022
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Supplement: biomedicines-10-01208-s001.zip › biomedicines-1723870-supplementary.pdf
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
Patruno M et al.
Cancers, 2021
34572941 (PubMed )
Supplement: cancers-13-04714-s001.zip › cancers-1331888-supplementary.pdf
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
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Genome Biology, 2014
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Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
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Cancer Research, 2005
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