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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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  Data: <searchLink fieldCode="JN" term="%22Annals+of+Clinical+%26+Translational+Neurology%22">Annals of Clinical & Translational Neurology</searchLink>. Sep2025, Vol. 12 Issue 9, p1834-1845. 12p.
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              Text: Sep2025
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              Y: 2025
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