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Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Lowe Syndrome FamilyAllelic VariantGenetic DisorderGeneticsMolecular BiologyMolecular GeneticsGenetic VariationTriple MosaicismGenomicsDisease Gene IdentificationChromosomal RearrangementMedicineMosaicism