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BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

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Title: BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Authors: Orbach, Rotem1 (AUTHOR), Maio, Nunziata2 (AUTHOR) nunziata.maio@nih.gov, Butterfield, Russell J.3 (AUTHOR), Foley, A. Reghan1 (AUTHOR), Silverstein, Sarah1 (AUTHOR), Li, Yan4 (AUTHOR), Chao, Katherine5 (AUTHOR), Lehky, Tanya J.6 (AUTHOR), Potticary, Abigail1 (AUTHOR), Rouault, Tracey A.2 (AUTHOR), Donkervoort, Sandra1 (AUTHOR), Bönnemann, Carsten G.1 (AUTHOR) carsten.bonnemann@nih.gov
Source: Annals of Clinical & Translational Neurology. Sep2025, Vol. 12 Issue 9, p1834-1845. 12p.
Database: Academic Search Ultimate
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ISSN:23289503
DOI:10.1002/acn3.70108