PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

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dc.contributor.authorMirzaa, G.
dc.contributor.authorTimms, A. E.
dc.contributor.authorConti, V.
dc.contributor.authorBoyle, E. A.
dc.contributor.authorGirisha, K. M.
dc.contributor.authorMartin, B.
dc.contributor.authorKircher, M.
dc.contributor.authorOlds, C.
dc.contributor.authorJuusola, J.
dc.contributor.authorInestrosa Cantín, Nibaldo
dc.contributor.authorAracena Álvarez, Mariana Inés
dc.contributor.authorCollins, S.
dc.contributor.authorPark, K.
dc.contributor.authorCarter, M.
dc.contributor.authorGlass, I.
dc.contributor.authorKrogeloh-Mann, I.
dc.contributor.authorChitayat, D.
dc.contributor.authorParikh, A. S.
dc.contributor.authorBradshaw, R.
dc.contributor.authorTorti, E.
dc.contributor.authorBraddock, S.
dc.contributor.authorBurke, L.
dc.contributor.authorGhedia, S.
dc.contributor.authorStephan, M.
dc.contributor.authorStewart, F.
dc.contributor.authorPrasad, C.
dc.contributor.authorNapier, M.
dc.contributor.authorSaitta, S.
dc.contributor.authorStraussberg, R.
dc.contributor.authorGabbett, M.
dc.contributor.authorO'Connor, B. C.
dc.contributor.authorKeegan, C. E.
dc.contributor.authorYin, L. J.
dc.contributor.authorLai, A. H. M.
dc.contributor.authorMartin, N.
dc.contributor.authorMcKinnon, M.
dc.contributor.authorAddor, M. C.
dc.contributor.authorBoccuto, L.
dc.contributor.authorSchwartz, C. E.
dc.contributor.authorLanoel, A.
dc.contributor.authorConway, R. L.
dc.contributor.authorDevriendt, K.
dc.contributor.authorTatton-Brown, K.
dc.contributor.authorPierpont, M. E.
dc.contributor.authorPainter, M.
dc.contributor.authorWorgan, L.
dc.contributor.authorReggin, J.
dc.contributor.authorHennekam, R.
dc.contributor.authorTsuchiya, K.
dc.contributor.authorPritchard, C. C.
dc.contributor.authorGripp, K. W.
dc.contributor.authorCordisco, M.
dc.contributor.authorVan Esch, H.
dc.contributor.authorGaravelli, L.
dc.contributor.authorCurry, C.
dc.contributor.authorGoriely, A.
dc.contributor.authorKayserilli, H.
dc.contributor.authorShendure, J.
dc.contributor.authorGraham, J.
dc.contributor.authorGuerrini, R.
dc.contributor.authorDobyns, W. B.
dc.date.accessioned2021-05-13T17:49:49Z
dc.date.available2021-05-13T17:49:49Z
dc.date.issued2016
dc.format.extent18 páginas
dc.fuente.origenConveris
dc.identifier.doi10.1172/jci.insight.87623
dc.identifier.issn2379-3708
dc.identifier.urihttps://doi.org/10.1172/jci.insight.87623
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/58046
dc.issue.numeroNo. 9
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final18
dc.pagina.inicio1
dc.revistaJCI. INSIGHTes_ES
dc.rightsacceso abierto
dc.titlePIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributiones_ES
dc.typeartículo
dc.volumenVol. 1
sipa.codpersvinculados99831
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