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Fig. 3 | Human Genomics

Fig. 3

From: Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Fig. 3

HOXD3 variant is associated with MRKH syndrome. A HOXD3 is highly expressed in the human uterus. The data were obtained from an online database (https://varsome.com/gene/HOXD3). The red arrow denotes the expression level of HOXD3 in the human uterus. B Sanger sequencing validating the HOXD3 variant in patient Fc-M-4. The red arrow indicates the variant site c.575C>G. C The full-length wild-type (WT) HOXD3 protein and P192R mutant protein structures were predicted by RoseTTAFold. D The predicted protein structures for the WT HOXD3 protein (green) and the P192R mutant protein (red) were aligned

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Human Genomics

ISSN: 1479-7364