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Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

Allelic VariantSomatic VariantPoint MutationsGenetic DisorderMedicineGeneticsPathologyMolecular GeneticsGenomicsSlc7a9 GenesMolecular DiagnosticsLarge RearrangementsVariant Interpretation