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Fig. 3 | Journal of Translational Medicine

Fig. 3

From: Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue

Fig. 3

Annotations mapped to the two assembled alleles. Features on the forward strand are coloured green, reverse strand features are blue. Top: REF allele shows the standard arrangement of genes. Bottom: ALT allele shows AKR1C1 swapped with the coding region of AKR1C2. The inversion, the ~320 bp insertion and the donor loss splice-site variant are indicated in red. A, B and C are transcriptional cis-regulatory regions on the forward strand

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Journal of Translational Medicine

ISSN: 1479-5876

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