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Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
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The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.
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Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
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Database : the Journal of Biological Databases and Curation, 2019
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Exceptional Response to Everolimus in a Patient with Metastatic Castrate-Resistant Prostate Cancer Harboring a PTEN Inactivating Mutation.
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