Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A117G
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TTR

NM_000371.4:p.A117G

Associated Papers

Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.

Lomoio U et al.

Npj Systems Biology and Applications, 2025

40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf

Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p. Ala117Gly) mutation: a post-mortem analysis.

Koike H et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2018

Common clinicopathological features in late-onset hereditary transthyretin amyloidosis (Ala97Gly, Val94Gly and Val30Met).

Koike H et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 0

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