Associated Papers
Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function.
Cha JH et al.
Molecular Therapy. Nucleic Acids, 2024
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing.
Jun JW et al.
Ophthalmic Genetics, 2023
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2021
Select a paper to view details