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Fig. 2 | Human Genomics

Fig. 2

From: Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

Fig. 2

NGS and Sanger outputs (IGV and electropherogram) sequencing results. A Schematic SPATA5 gene partial structure. Only exons 11, 12, 13 and 14 are shown. B Patients’ NGS results in both relevant regions. To the left, the frameshift deletion, to the right the missense variant. C Sanger sequencing results on the patient (P), mother (M) and father (F) showing that the frameshift deletion is inherited from the mother (left) and the missense variant is inherited from the father (right)

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Human Genomics

ISSN: 1479-7364