Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D59Y
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TTR

NM_000371.4:p.D59Y

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

Identification of a novel transthyretin mutation D39Y in a cardiac amyloidosis patient and its biochemical characterizations.

Ma Q et al.

Frontiers in Cardiovascular Medicine, 2023

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Shi Z et al.

Proteins, 2012

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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."