Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V48M
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TTR

NM_000371.4:p.V48M

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

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.

González-Moreno J et al.

Cardiology and Therapy, 2024

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Gentile L et al.

Orphanet Journal of Rare Diseases, 2023

37946256 (PubMed )
Supplement: 13023_2023_2962_MOESM1_ESM.docx

A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Coelho T et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.

Dispenzieri A et al.

Orphanet Journal of Rare Diseases, 2022

35717381 (PubMed )
Supplement: 13023_2022_2359_MOESM1_ESM.docx

Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.

Martens B et al.

Acta Neurologica Belgica, 2018

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

Iorio A et al.

Bmc Genomics, 2017

28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

Dohrn MF et al.

Journal of Neurology, 2013

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