Recurrent bi-allelic splicing variant c.454+3A>G in...

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Brain 2020 / 03

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Kaur, Parneet, Kadavigere, Rajagopal, Girisha, Katta Mohan, Shukla, Anju
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Journal:
Brain
DOI:
10.1093/brain/awaa046
Date:
March, 2020
File:
PDF, 321 KB
2020
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