- Tytuł:
- Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL
- Autorzy:
- Temat:
-
Arylsulfatase L
Rare disease
Missense variant
Stabilization energy
Sulfatase activity
Protein instability
Medicine (General)
R5-920
Biology (General)
QH301-705.5 - Źródło:
- Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101016- (2023)
- Opis pliku:
- electronic resource
- Relacje:
- http://www.sciencedirect.com/science/article/pii/S2214426923000629; https://doaj.org/toc/2214-4269
- Dostęp URL:
- https://doaj.org/article/9a483fec4a0e4c73898ecb681d86b97e  Link otwiera się w nowym oknie
Czasopismo naukowe