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

Fachal Vilar, Laura; Vega Gliemmo, Ana; Santamariña Pena, Marta; Blanco Pérez, Ana
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URI: http://hdl.handle.net/20.500.11940/3782
PMID: 23893897
ISSN: 1059-7794
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Date issued
2013
Journal title
HUMAN MUTATION
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Artigo