Associated Papers
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
Schuettpelz J et al.
Life Science Alliance, 2023
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
van Dijk T et al.
Brain : a Journal of Neurology, 2017
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