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Additional file 2: of Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

التفاصيل البيبلوغرافية
العنوان:	Additional file 2: of Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
المؤلفون:	Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María, Desviat, Lourdes, Riera, Casandra, Natàlia Padilla, Cruz, Xavier De La, Couce, Mari, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, Almeida, Isabel De, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
بيانات النشر:	figshare, 2018.
سنة النشر:	2018
مصطلحات موضوعية:	integumentary system, polycyclic compounds, nutritional and metabolic diseases, sense organs, skin and connective tissue diseases
الوصف:	Functional prediction of new splicing changes identified in cobalamin gene defects. (DOCX 20 kb)
DOI:	10.6084/m9.figshare.6858722.v1
URL الوصول:	https://explore.openaire.eu/search/publication?articleId=doi_________::3ea9ab858875c31f6b415ec27df11bce
حقوق:	OPEN
رقم الأكسشن:	edsair.doi...........3ea9ab858875c31f6b415ec27df11bce
قاعدة البيانات:	OpenAIRE

الوصف
DOI:	10.6084/m9.figshare.6858722.v1