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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: SURF1 deficiency: a multi-centre natural history study

Figure 2

Pathogenic mutations in the human SURF1 gene. A schematic diagram of the SURF1 gene illustrating 83 mutations reported to date. Red: novel unreported mutations identified in this study, blue: other mutations which have been previously reported and found in this study, black: mutations previously reported in the literature.

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