Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File012-v2.xlsx › P_LP_VUS
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
39104869 (PubMed )
Supplement: mmc1.pdf
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
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