Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yen-Chen Leu"'
Autor:
Kellan P. Weston, Xiaoyi Gao, Jinghan Zhao, Kwang-Soo Kim, Susan E. Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan Shinawi, Joshua P. Steimel, Joseph S. Harrison, Jason J. Yi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
UBE3A gene dysregulation is associated with neurodevelopmental disorders, but predicting the function of UBE3A variants remains difficult. The authors use a high-throughput assay to categorize variants by functional activity, and show that UBE3A hype
Externí odkaz:
https://doaj.org/article/558b49ad0b204a65b82f15573d8dfef0
Autor:
Xiaoyi Gao, Kwang-Soo Kim, Joseph S. Harrison, Jinghan Zhao, Sumit Parikh, Jill Gotoff, Jason J. Yi, Kuen-Phon Wu, Marwan Shinawi, Kellan P Weston, Yen-Chen Leu, Susan E. Maloney, Joshua P Steimel
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications
Nature Communications
The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly understood. Here, we develop a large-scale assay to characterize the functional valence (gain or loss-of-function) of missense variants identified in UBE3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e0e009827af26bb3444fe312bba6664
https://doi.org/10.1038/s41467-021-27156-0
https://doi.org/10.1038/s41467-021-27156-0