Varaico: Literature-Extracted Genetic Variants

Gene:TFG
Variant:p.P265A
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TFG

NM_006070.6:p.P265A

Associated Papers

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.

Xu L et al.

Journal of Medical Genetics, 2024

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

Damiani D et al.

International Journal of Molecular Sciences, 2024

TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.

Chen X et al.

Cns Neuroscience & Therapeutics, 2022

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.

Wu DW et al.

Brain and Behavior, 2020

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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."