Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V15V
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TTR

NM_000371.4:p.V15V

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

Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.

Ibrahim RB et al.

Cellular and Molecular Life Sciences : Cmls, 2020

[Hereditary and acquired transthyretin-mediated amyloidosis].

van der Bie MH et al.

Nederlands Tijdschrift Voor Geneeskunde, 2020

A pair of peptides inhibits seeding of the hormone transporter transthyretin into amyloid fibrils.

Saelices L et al.

The Journal of Biological Chemistry, 2019

Abnormal small bowel motility in patients with hereditary transthyretin amyloidosis.

Wixner J et al.

Neurogastroenterology and Motility, 2018

Frequency of and Prognostic Significance of Cardiac Involvement at Presentation in Hereditary Transthyretin-Derived Amyloidosis and the Value of N-Terminal Pro-B-Type Natriuretic Peptide.

Klaassen SHC et al.

The American Journal of Cardiology, 2018

Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).

Klaassen SHC et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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