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Care of patients with Phenylketonuria (PKU) in Germany – a claims data analysis from 2013 to 2023
Jul 2, 2026
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China
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Characterisation of the <i>SMN1/2</i> locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals
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