Associated Papers
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
40433928 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Tabelle1
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.
Priglinger CS et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.
Seo Y et al.
Frontiers in Neurology, 2022
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.
Li ZD et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020
Select a paper to view details