Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.L165R
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PLP1

NM_000533.5:p.L165R

Associated Papers

Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.

Pizzini F et al.

Ajnr. American Journal of Neuroradiology, 2003

Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).

Hodes ME et al.

American Journal of Medical Genetics, 1999

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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."