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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3

Fig. 2

Expression analysis of the missense variant in GREB1L. a RT-PCR revealed downregulation of GREB1L mRNA expression caused by the mutation. b The centroid secondary structure of the WT and MUT GREB1L mRNA with RNAfold. c The prediction of minimum free energy of mRNA secondary structure. d Western blotting revealed downregulation of GREB1L protein expression caused by the mutation

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