Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D58Y
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TTR

NM_000371.4:p.D58Y

Associated Papers

Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy.

Lin J et al.

Frontiers in Cardiovascular Medicine, 2024

Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Patel JK et al.

Neurology and Therapy, 2022

Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.

Rowczenio D et al.

Human Mutation, 2019

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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."