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Jessica K. Lu
Jessica K. Lu
Children's Hospital at Westmead
Muscle biopsy
Myotubularin
Biology
Exon
Nonsense mutation
2
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2
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0
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Fabrication of Brain-on-a-Chip Devices
2021
Jessica K. Lu
Pramila Ghode
Nitish V. Thakor
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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.
2020
European Journal of Human Genetics
Samantha J. Bryen
Emily C. Oates
Frances J. Evesson
Jessica K. Lu
Leigh B. Waddell
Himanshu Joshi
Monique M. Ryan
Beryl B. Cummings
Catriona McLean
Daniel G. MacArthur
Andrew J. Kornberg
Sandra T. Cooper
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