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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment | PLOS Genetics
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Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis | Human Genomics | Full Text
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No effect of triheptanoin in patients with phosphofructokinase deficiency - ScienceDirect
