A New Class of Pathogenic Non-Coding Variants in GLA

Yujing Yuan1, Xinyu Zhang1, Chen Ling1

  • 1Department of Neurology, Peking University First Hospital, Beijing 100034, China.

Summary

Long-read sequencing (LRS) identified novel non-coding variants in two Fabry disease (FD) patients, revealing new genetic causes for the condition. This advanced technique aids in diagnosing complex cases missed by conventional genetic testing.

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