Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.L30R
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PTHLH

NM_198965.2:p.L30R

Associated Papers

PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations.

Cloake NC et al.

Journal of Clinical Medicine, 2018

Immune cells contribute to myelin degeneration and axonopathic changes in mice overexpressing proteolipid protein in oligodendrocytes.

Ip CW et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

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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."