Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L75Q
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TTR

NM_000371.4:p.L75Q

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

Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.

Suhr OB et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2009

Ophthalmological manifestations of hereditary transthyretin amyloidosis.

Gondim FAA et al.

Arquivos Brasileiros De Oftalmologia, 0

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