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Search for publications relevant for "variant validation"
variant validation
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publication
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
2019 |
First Faculty of Medicine
publication
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease
2016 |
First Faculty of Medicine