- Tytuł:
- Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
- Autorzy:
- Temat:
-
JOUBERT syndrome
GENETIC variation
RAS proteinsMISSENSE mutation
CELL physiology
CELLULAR signal transduction - Źródło:
- Journal of Cellular Physiology; Apr2024, Vol. 239 Issue 4, p1-10, 10p
Czasopismo naukowe