A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome
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Background: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative disorder caused by pathogenic variants in TIMM8A. Of the 39 previously reported disease-causing variants in the TIMM8A, five are splice site v... ...
