Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E109V
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TTR

NM_000371.4:p.E109V

Associated Papers

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

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.

Dori A et al.

European Journal of Neurology, 2025

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Bhatt K et al.

Journal of the American Heart Association, 2024

39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf

Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.

Kolawole OU et al.

Molecular Vision, 2023

AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up.

Dalma-Weiszhausz J et al.

Retina (philadelphia, Pa.), 2022

Transthyretin cardiac amyloidosis.

Tomoaia R et al.

Medicine and Pharmacy Reports, 2021

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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."