Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.L146L
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PLP1

NM_000533.5:p.L146L

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2

Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.

Tantzer S et al.

Molecular Therapy. Nucleic Acids, 2018

30195779 (PubMed )
Supplement: mmc1.pdf

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Kevelam SH et al.

Annals of Clinical and Translational Neurology, 2015

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

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

Regis S et al.

Plos One, 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."