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

✍ Scribed by Betsalel, Ofir T; Rosenberg, Efraim H; Almeida, Ligia S; Kleefstra, Tjitske; Schwartz, Charles E; Valayannopoulos, Vassili; Abdul-Rahman, Omar; Poplawski, Nicola; Vilarinho, Laura; Wolf, Philipp

• Book ID: 109849235
• Publisher: Nature Publishing Group
• Year: 2010
• Tongue: English
• Weight: 910 KB
• Volume: 19
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/ejhg.2010.134