Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.K90E
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TTR

NM_000371.4:p.K90E

Associated Papers

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.

Waddington-Cruz M et al.

Orphanet Journal of Rare Diseases, 2019

30736835 (PubMed )
Supplement: 13023_2019_1000_MOESM1_ESM.docx

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

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.

Raivio VE et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2016

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."