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Fig. 4 | Human Genomics

Fig. 4

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

Fig. 4

GLI3 variant is associated with MRKH syndrome. A GLI3 is highly expressed in the human uterus and vagina. The data were obtained from an online database (https://varsome.com/gene/GLI3). The red arrows denote the expression level of GLI3 in the human uterus and vagina. B Sanger sequencing validating the GLI3 variant in patient Fc-M-8. The red arrow indicates the variant site c.895C>G. C The 1–683 amino acid sequence for wild-type (WT) GLI3 protein and L299V mutant protein structures were predicted by RoseTTAFold. D The predicted protein sequence (1–683 amino acids) structures for WT GLI3 protein (green) and the L299V mutant protein (red) were aligned

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Human Genomics

ISSN: 1479-7364