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Oxford University Press

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Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus

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Oxford University Press

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Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

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Human Genetics, Vol. 114, Iss. 3, 2004-02 ,pp. : 314-316

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Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia

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John Wiley & Sons Inc

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Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis

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