Varaico: Literature-Extracted Genetic Variants

Gene:TBCD
Variant:p.R294W
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TBCD

NM_005993.5:p.R294W

Associated Papers

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

Aynekin B et al.

Neurogenetics, 2025

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Di Bella D et al.

European Journal of Neurology, 2021

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.

Quitmann CM et al.

Child Neurology Open, 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."