Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.E136fs
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PLP1

NM_000533.5:p.E136fs

Associated Papers

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

Ji H et al.

Plos One, 2018

29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table

Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.

Laukka JJ et al.

Journal of Neuroscience Research, 2014

Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.

Laukka JJ et al.

Journal of the Neurological Sciences, 2013

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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."