Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.H133R
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PLP1

NM_000533.5:p.H133R

Associated Papers

A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.

Pavlidou E et al.

Brain & Development, 2017

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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."