Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.G147G
Back to variants list

PLP1

NM_000533.5:p.G147G

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

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.

Nevin ZS et al.

American Journal of Human Genetics, 2017

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Kevelam SH et al.

Annals of Clinical and Translational Neurology, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."