Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode‐Shakked, Beat Thöny, Nan Shen, Virgínia Guarani, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek‐Yagel,

The American Journal of Human Genetics · 2017 · 155 citations · 17 references

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