FIGURE
Fig. 1
- ID
- ZDB-FIG-260529-14
- Publication
- Tan et al., 2026 - Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
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Fig. 1
Bi-allelic variants in NDUFA5 segregate with disease (A) Pedigrees for the three families described in this study. Consanguineous F3:I-1 and F3:I-2 are second cousins. (B) Schematic showing the NDUFA5 gene and protein structure based on NCBI reference sequence GenBank: NM_005000.5. The location of variants described in this study are shown underneath the schematic. (C) Brain MRI at 11 months of age for individual F2:II-1. (D) Brain MRI at 3 years of age for individual F3:II-2. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
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Full text @ Am. J. Hum. Genet.