Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.F80del1
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PLP1

NM_000533.5:p.F80del1

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

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H et al.

Plos One, 2018

29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table

PLP1 gene analysis in 88 patients with leukodystrophy.

Martínez-Montero P et al.

Clinical Genetics, 2013

Pelizaeus-Merzbacher disease as a chromosomal disorder.

Yamamoto T et al.

Congenital Anomalies, 2013

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Shimojima K et al.

Brain & Development, 2010

Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene.

Kim AR et al.

Annals of Indian Academy of Neurology, 0

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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."