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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

Fig. 4

Metabolic profile of ARB patients. a Distribution of metabolites in the whole family. b The significantly differential expressed metabolites (fold change > 1.2, P < 0.05). c KEGG einrichment analysis of differential expressed metabolites between ARB patients (A/A, n = 2) and their wild-type sisters (G/G, n = 3) and between ARB patients (A/A, n = 2) and the heterozygosity group (A/G, n = 2). The size of the bubble represents the number of genes in each pathway

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BMC Medical Genetics

ISSN: 1471-2350

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