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Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

scientific article

Author/s

author: Mara Colombo, Logan Walker, Laura Fachal, Paolo Radice, Amanda Spurdle, Melissa C. Southey, Claude Houdayer

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Work details

Publication date
August 13, 2013
- -
Language
English

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