DOORS Syndrome and a Recurrent Truncating ATP6V1B2 VariantEliane Beauregard-Lacroix,Guillermo Pacheco-Cuellar,Norbert F. Ajeawung,Jessica Tardif,Klaus Dieterich,Tabib Dabir,Dina Vind-Kezunovic,Susan M. White,Denes Zadori,Claudia Castiglioni,Lisbeth Tranebjærg,Pernille Mathiesen Tørring,Ed Blair,Marzena Wisniewska,Maria Vittoria Camurri,Yolande van Bever,Sirinart Molidperee,Juliet Taylor,Alexandre Dionne-Laporte,Sanjay M. Sisodiya,Raoul C. M. Hennekam,Philippe M. CampeauGenetics in Medicine（2020）引用 11|浏览24关键词DOORS syndrome,DDOD syndrome,ATP6V1B2 gene,TBC1D24 gene,exome sequencingAI 理解论文溯源树样例生成溯源树，研究论文发展脉络Chat Paper正在生成论文摘要
