Mostrar el registro sencillo del ítem

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

dc.contributor.authorFachal Vilar, Laura
dc.contributor.authorVega Gliemmo, Ana
dc.contributor.authorSantamariña Pena, Marta
dc.contributor.authorBlanco Pérez, Ana
dc.date.accessioned2017-06-07T07:12:12Z
dc.date.available2017-06-07T07:12:12Z
dc.date.issued2013
dc.identifier.issn1059-7794
dc.identifier.urihttp://hdl.handle.net/20.500.11940/3782
dc.language.isoeng
dc.titleEvaluation 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
dc.typeArtigoes
dc.authorsophosWalker, L. C.
dc.authorsophosWhiley, P. J.
dc.authorsophosHoudayer, C.
dc.authorsophosHansen, T. V. O.
dc.authorsophosVega, A.
dc.authorsophosSantamarina, M.
dc.authorsophosBlanco, A.
dc.authorsophosFachal, L.
dc.authorsophosSouthey, M. C.
dc.authorsophosLafferty, A.
dc.authorsophosColombo, M.
dc.authorsophosDe Vecchi, G.
dc.authorsophosRadice, P.
dc.authorsophosSpurdle, A. B.
dc.identifier.doi10.1002/humu.22388
dc.identifier.isi324752700016
dc.identifier.pmid23893897
dc.identifier.sophos13585
dc.issue.number10
dc.journal.titleHUMAN MUTATION
dc.organizationConsellería de Sanidade::Fundación pública Galega de Medicina Xenómica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago::IDIS.- Instituto de investigaciones sanitarias de Santiago
dc.page.initial1424
dc.page.final1431
dc.rights.accessRightsopenAccess
dc.typesophosArtículo Original
dc.volume.number34


Ficheros en el ítem

FicherosTamañoFormatoVer

No hay ficheros asociados a este ítem.

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem