Varaico: Literature-Extracted Genetic Variants

Gene:TFG
Variant:p.I66T
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TFG

NM_006070.6:p.I66T

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG57

Multiple roles for TFG ring complexes in neuronal cargo trafficking.

Zhang Z et al.

Biorxiv : the Preprint Server for Biology, 2024

Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.

Hsiao CT et al.

Annals of Clinical and Translational Neurology, 2024

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

Chen X et al.

Cns Neuroscience & Therapeutics, 2022

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.

Khorrami M et al.

Journal of Human Genetics, 2021

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

Miyabayashi T et al.

Journal of Human Genetics, 2019

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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."