Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E112_V113Splc
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TTR

NM_000371.4:p.E112_V113Splc

Associated Papers

Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.

Domínguez-Martínez M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.

Konecki C et al.

European Journal of Neurology, 2024

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

Abouelhoda M et al.

Human Genomics, 2021

34380564 (PubMed )
Supplement: 40246_2021_351_MOESM1_ESM.xlsx › Sheet1

Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis.

Alves-Ferreira M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021

Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy.

Levine TD et al.

Muscle & Nerve, 2018

Rare Genetic Variants of the Transthyretin Gene Are Associated with Alzheimer's Disease in Han Chinese.

Xiang Q et al.

Molecular Neurobiology, 2017

A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.

Olsson M et al.

Bmc Medical Genetics, 2010

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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."