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Citation: Y. Sabbagh et al., PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia, HUM MUTAT, 16(1), 2000, pp. 1-6

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Citation: Pj. Waters et al., Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria, J INH MET D, 22(3), 1999, pp. 208-212