Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mendeliome Group"'
Autor:
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
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients, which highlights the need for accurate identification and interpretation of novel vari
Externí odkaz:
https://doaj.org/article/d4f8244eab354a59b6af99779f7a3556
Autor:
Saudi Mendeliome Group
Publikováno v:
Genome Biology; 2015, Vol. 16 Issue 1, p134-147, 14p, 3 Charts