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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

par Williamson, Kathleen K.A.;Hall, Hildegard Nikki;Owen, Liusaidh L.J.;Livesey, Benjamin B.J.;Hanson, Isabel I.M.;Adams, Gillian Gwendolen G.G.W.;Bodek, Simon;Calvas, Patrick;Castle, Bruce;Clarke, Michael;Deng, Alexander A.T.;Edery, Patrick;Fisher, Richard R.S.;Gillessen-Kaesbach, Gabriele;Heon, Elise;Hurst, Jane;Josifova, Dragana;Lorenz, Birgit;McKee, Shane;Meire, Françoise ;Moore, Anthony Thomas;Parker, Michael W;Reiff, Charlotte C.M.;Self, Jay;Tobias, Edward E.S.;Verheij, Joke BGM G M J.;Willems, Marjolaine;Williams, Denise;Van Heyningen, Veronica;Marsh, Joseph Arthur;FitzPatrick, David D.R.
Référence Genetics in medicine
Publication Publié, 2019

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Titre:	Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Auteur:	Williamson, Kathleen K.A.; Hall, Hildegard Nikki; Owen, Liusaidh L.J.; Livesey, Benjamin B.J.; Hanson, Isabel I.M.; Adams, Gillian Gwendolen G.G.W.; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander A.T.; Edery, Patrick; Fisher, Richard R.S.; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Françoise; Moore, Anthony Thomas; Parker, Michael W; Reiff, Charlotte C.M.; Self, Jay; Tobias, Edward E.S.; Verheij, Joke BGM G M J.; Willems, Marjolaine; Williams, Denise; Van Heyningen, Veronica; Marsh, Joseph Arthur; FitzPatrick, David D.R.
Informations sur la publication:	Genetics in medicine
Statut de publication:	Publié, 2019
Sujet CREF:	Génétique clinique
Mots-clés:	microphthalmia
	missense variant
	paired domain
	PAX6
	protein destabilization
Note générale:	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:1098-3600
	info:doi/10.1038/s41436-019-0685-9
	info:scp/85074852716
	info:pmid/31700164