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Genetic findings in patient 2 showing A) Copy number analysis using Chromosome Analysis Suite in patient 2 deletion containing exons: 13-17 of ANO5. B) Multiplex PCR including ANO5 (exons: 13,14,15,16,17) and ATL1 (Ex.6) as a internal control in patient one and normal control. ANO5 - anoctamin 5, PCR - polymerase chain reaction
