Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

O.T. Betsalel, E.H. Rosenberg, L.S. Almeida, T. Kleefstra, C.E. Schwartz, V. Valayannopoulos, O.A. Abdul-Rahman, N. Poplawski, L. Vilarinho, P. Wolf, J.T. den Dunnen, C.A.J.M. Jakobs, G.S. Salomons

Research output: Contribution to journalArticleAcademicpeer-review

19 Citations (Scopus)
Original languageEnglish
Pages (from-to)56-63
JournalEuropean journal of human genetics
Issue number1
Publication statusPublished - 2011

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