Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A96_V97del2
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PLP1

NM_000533.5:p.A96_V97del2

Associated Papers

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H et al.

Plos One, 2018

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Nafisinia M et al.

European Journal of Human Genetics : Ejhg, 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."