Associated Papers
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
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