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John Wiley & Sons Inc

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Identification of Two Mutations in a Compound Heterozygous Child with Dihydrolipoamide Dehydrogenase Deficiency

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Oxford University Press

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Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

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Heterozygous mutations in BBS1 , BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus

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

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