Associated Papers
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Kaiyrzhanov R et al.
Brain Communications, 2025
39963288 (PubMed )
Supplement: fcae453_Supplementary_Data.zip › Supplementary_Table_1.xlsx › Sheet_1
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.
González-Quintana A et al.
Genes, 2020
Select a paper to view details