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.