Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L392fs
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ABCD1

NM_000033.4:p.L392fs

Associated Papers

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

Koutsis G et al.

Journal of the Neurological Sciences, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."