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Zelinkova, Z

This patient's presentation of a single, specific mutation (999del5) causing a large percentage of regional cases illustrates an isolated founder mutation rather than broad genetic heterogeneity

Li, X., Chen, D., Le, C., Zhu, C., Gan, Y., Hovgaard, L., & Yang, M

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Tilley SK, Fry RC (2015) Priority environmental contaminants
