Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A115E
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PLP1

NM_000533.5:p.A115E

Associated Papers

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

Warshawsky I et al.

Clinical Chemistry, 2006

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.

Hobson GM et al.

Human Mutation, 2006

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

Inoue K

Neurogenetics, 2005

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.

Shy ME et al.

Annals of Neurology, 2003

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

Nance MA et al.

Neurology, 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."