Next up is Hiltrud Muhle with a case that was long unsolved. Phenotype: ID, epilepsy and rhabdomyolysis. Array, exome were negative. She talked to Dr. Rene Santer from UKE in Hamburg: he suggested to re-check #TANGO2. He was right on. #DGfE22 https://t.co
Identification of novel candidate disease genes from de novo exonic copy number variants https://t.co/IFsRmx856Q
RT @GenomeMedicine: Clinical #genomics: Identification of novel candidate disease genes from de novo exonic copy number variants https://t.…
RT @GenomeMedicine: Clinical #genomics: Identification of novel candidate disease genes from de novo exonic copy number variants https://t.…