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Article

Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

PloS one - 1 Jan 2024

Gentile Luca, Diemberger Igor, Plante-Bordeneuve Violaine, Mazzeo Anna, Dori Amir, Luigetti Marco, Di Paolantonio Andrea, Dispenzieri Angela, Grogan Martha, Waddington Cruz Márcia, Adams David, Inamo Jocelyn, Kristen Arnt V, Lino Cirami Calogero, Chapman Doug, Gupta Pritam, Glass Oliver, Amass Leslie

Abstract excerpt

Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated with ATTRv amyloidosis have been identified, although little is known about the majority of these genotypes. This analysis examined phenotypic characteristics of symptomatic patients with ATTRv amyloidosis enrolled in the Transthyretin Amyloidosis...

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Identifiers

PMID: 38241252
DOI: 10.1371/journal.pone.0292435
PMCID: PMC10798432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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