Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.G386E
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TARDBP

NM_007375.4:p.G386E

Associated Papers

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp002.pdf

Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.

Li J et al.

Journal of Neurology, 2022

Facial Onset Motor and Sensory Neuronopathy Syndrome With a Novel TARDBP Mutation.

Zhang Q et al.

The Neurologist, 2019

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Yu CE et al.

Archives of Neurology, 2010

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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."