المؤلفون: Ekong, R. (Rosemary), Nellist, M.D. (Mark), Hoogeveen-Westerveld, M. (Marianne), Wentink, M.W.J. (Marjolein), Panzer, J. (Jessica), Sparagana, S.P. (Steven), Emmett, W. (Warren), Dawson, N.L. (Natalie L.), Malinge, M.C. (Marie Claire), Nabbout, R. (Rima), Carbonara, C. (Caterina), Barberis, M. (Marco), Padovan, S. (Sergio), Futema, M. (Marta), Plagnol, V. (Vincent), Humphries, S.E. (Steve E.), Migone, N. (Nicola), Povey, S. (Sue)

المصدر: Human Mutation vol. 37 no. 4, pp. 364-370

مصطلحات موضوعية: Alternative splicing, Diagnosis, TSC2, Tuberous sclerosis, Variants

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/92408; urn:hdl:1765/92408

الاتاحة: http://repub.eur.nl/pub/92408
https://doi.org/10.1002/humu.22951