Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.V120Splc
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TBK1

NM_013254.4:p.V120Splc

Associated Papers

Clinicopathologic Characterization of 2 Individuals With TBK1 Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case Series.

Domoto-Reilly K et al.

Neurology. Genetics, 2024

Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers.

Tondo G et al.

Neuroimage. Clinical, 2022

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.

Mesaros M et al.

Genes, 2021

35052416 (PubMed )
Supplement: genes-13-00076-s001.zip › genes-1514337-supplementary.pdf
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