Varaico: Literature-Extracted Genetic Variants

Gene:TFG
Variant:p.R22W
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TFG

NM_006070.6:p.R22W

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

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

Xu L et al.

Journal of Medical Genetics, 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 review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 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

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1

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

Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.

Slosarek EL et al.

Cell Reports, 2018

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Catania A et al.

Neurogenetics, 2018

TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.

Tariq H et al.

Neurogenetics, 2017

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Elsayed LEO et al.

European Journal of Human Genetics : Ejhg, 2016

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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."