Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.D203G
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PLP1

NM_000533.5:p.D203G

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

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Duan R et al.

Orphanet Journal of Rare Diseases, 2022

Brain Diffusion Imaging and Tractography to Distinguish Clinical Severity of Human PLP1-Related Disorders.

Sarret C et al.

Developmental Neuroscience, 2018

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.

Lu Y et al.

Human Genome Variation, 2017

28101371 (PubMed )
Supplement: hgv201644-s1.doc

Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.

Sarret C et al.

Developmental Medicine and Child Neurology, 2016

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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."