Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D38E
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TTR

NM_000371.4:p.D38E

Associated Papers

Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis.

Hamoudi L et al.

Journal Francais D'ophtalmologie, 2025

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf

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

Early Detection of Transthyretin Cardiac Amyloidosis Using 124I-Evuzamitide Positron Emission Tomography/Computed Tomography.

Smiley DA et al.

Jacc. Cardiovascular Imaging, 2025

Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.

Losada López I et al.

Journal of Clinical Medicine, 2024

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

Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.

Jang MA et al.

Annals of Human Genetics, 2015

High prevalence of ATTR amyloidosis in endomyocardial biopsy-proven cardiac amyloidosis patients.

Nakagawa M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2013

A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid.

Solano JM et al.

Ophthalmic Genetics, 2007

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."