Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A248P
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PLP1

NM_000533.5:p.A248P

Associated Papers

Modulation of the oligomerization of myelin proteolipid protein by transmembrane helix interaction motifs.

Ng DP et al.

Biochemistry, 2010

A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.

Donnelly A et al.

Human Mutation, 1996

Genetics of Pelizaeus-Merzbacher disease.

Hodes ME et al.

Developmental Neuroscience, 1993

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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."