Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.S70I
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TTR

NM_000371.4:p.S70I

Associated Papers

Long-term outcome of acquired transthyretin amyloidosis.

Misumi Y et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2026

Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.

Lomoio U et al.

Npj Systems Biology and Applications, 2025

40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf

Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.

Nakamura K et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.

González-Moreno J et al.

Cardiology and Therapy, 2024

Prevalence estimation of ATTRv in China based on genetic databases.

Yongsheng Z et al.

Frontiers in Genetics, 2023

37124609 (PubMed )
Supplement: DataSheet1.PDF

Clinical recommendations to diagnose and monitor patients with transthyretin amyloid cardiomyopathy in Asia.

Lin W et al.

Clinical Cardiology, 2022

Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage.

Shen J et al.

Frontiers in Genetics, 2022

Plasma growth differentiation factor 15: a novel tool to detect early changes of hereditary transthyretin amyloidosis.

Okada M et al.

Esc Heart Failure, 2021

Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.

Chen Z et al.

Journal of Neuromuscular Diseases, 2021

Non-invasive detection and differentiation of cardiac amyloidosis using 99mTc-pyrophosphate scintigraphy and 11C-Pittsburgh compound B PET imaging.

Takasone K et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020

Electrophysiological demyelinating features in hereditary ATTR amyloidosis.

Ohashi N et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019

Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation.

Matsushima M et al.

Internal Medicine (tokyo, Japan), 2017

Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.

Sekijima Y

Journal of Neurology, Neurosurgery, and Psychiatry, 2015

Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis.

Sekijima Y et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2015

[Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy].

Sekijima Y

Rinsho Shinkeigaku = Clinical Neurology, 2014

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

[Transthyretin Arg-83 mutation in vitreous amyloidosis].

Chen L et al.

Yan Ke Xue Bao = Eye Science, 2008

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