An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.
Molecular Genetics And Metabolism Reports
Guillen Sacoto, Maria J MJ; Chapman, Kimberly A KA; Heath, Deneen D; Seprish, Mary Beth MB; Zand, Dina J DJ
Publication Date: 2015-06
Variant appearance in text: MED23: Val1360Val; rs138742804
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK