Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
基于 4577 个分子特征家族的致病变异识别陷阱的诊断意义
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-023-40909-3
Lama AlAbdi, Sateesh Maddirevula, Hanan E Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani; Mendeliome Group; Fowzan S Alkuraya