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    Knaus, A., Awaya, T., Helbig, I., Afawi, Z., Pendziwiat, M., Abu‐Rachma, J., Thompson, M. D., Cole, D. E., Skinner, S., Annese, F., Canham, N., Schweiger, M. R., Robinson, P. N., Mundlos, S., Kinoshita, T., Munnich, A., Murakami, Y., Horn, D., & Krawitz, P. M. (2016). rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human mutation, 37(8), 737–744. http://access.bl.uk/ark:/81055/vdc_100034747740.0x00000d