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Egyptian Journal of Medical Human Genetics
Fig. 2 | Egyptian Journal of Medical Human Genetics

Fig. 2

From: An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome

Fig. 2

SNAP2 heatmap of FBN1 gene prediction scores. The predicted effect of each variant from the wild-type amino acid (x-axis) to any other amino acid (y-axis) The color red denotes a strong signal for effect, the color white denotes a weak signal (inconclusive prediction), and the color blue denotes a strong signal for neutral variants. All amino acid substitutions with a score of 88 or higher were highlighted in red in position 1971 (highlighted in yellow box)

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