Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.R621Splc
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TBK1

NM_013254.4:p.R621Splc

Associated Papers

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Pottier C et al.

Nature Communications, 2025

40280976 (PubMed )
Supplement: 41467_2025_59216_MOESM3_ESM.xlsx › SD23

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › Novel_variants_
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