Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.I65fs
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PLP1

NM_000533.5:p.I65fs

Associated Papers

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.

Kubota K et al.

Brain & Development, 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."