DOI:
10.1055/s-00029030
Journal of Pediatric Neurology
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References
Hartley JN, Simard LR, Ly V, Del Bigio MR, Frosk P.
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Am J Med Genet A 2019;
179 (02) 206-218
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