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EC Number	Expression	Commentary	Reference
1.16.1.8	down	the c.56+781 A>C (rs326119) variant of intron-1 of MTRR significantly increases the risk of congenital heart disease in the Han Chinese population. The c.56+781 C allele profoundly decreases MTRR transcription	727334

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Release 2023.1 (January 2023)