Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A249T
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PLP1

NM_000533.5:p.A249T

Associated Papers

Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances.

Osaka H et al.

Brain & Development, 2025

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Charzewska A et al.

Clinical Genetics, 2016

TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

Carvalho D et al.

Brain : a Journal of Neurology, 2015

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

Ferreira C et al.

American Journal of Medical Genetics. Part A, 2014

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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."