Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.G120fs
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PLP1

NM_000533.5:p.G120fs

Associated Papers

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Manisha KY et al.

Neurology. Genetics, 2024

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Wright CF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported

Phenotype of PLP1-related Disorder Caused by Novel Mutation: A Case Report.

Kresojević N et al.

Movement Disorders Clinical Practice, 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."