Condition: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION


rs199801224 in TANGO2 gene and METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION PMID 30245509 2019 TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

PMID 27711071 2017 Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.