Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E74delins
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TTR

NM_000371.4:p.E74delins

Associated Papers

Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.

Yu TP et al.

Acta Cardiologica, 2024

Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.

Gospodinova M et al.

Frontiers in Cardiovascular Medicine, 2023

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

Rowczenio D et al.

Human Mutation, 2019

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.

Rowczenio DM et al.

Human Mutation, 2014

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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."