Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.K55T
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TTR

NM_000371.4:p.K55T

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

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.

Wang M et al.

Journal of Neurology, 2023

Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage.

Shen J et al.

Frontiers in Genetics, 2022

Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis.

Dohrn MF et al.

Neurological Research and Practice, 2021

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

Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.

Long D et al.

Ophthalmic Genetics, 2012

[Transthyretin Arg-83 mutation in vitreous amyloidosis].

Chen L et al.

Yan Ke Xue Bao = Eye Science, 2008

Ophthalmological manifestations of hereditary transthyretin amyloidosis.

Gondim FAA et al.

Arquivos Brasileiros De Oftalmologia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."