Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D38Y
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TTR

NM_000371.4:p.D38Y

Associated Papers

Transthyretin mutagenesis: impact on amyloidogenesis and disease.

Almeida ZL et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

Challenges in the approach to a patient with aortic stenosis and cardiac amyloidosis with ATTR mutation associated with negative scintigraphy - A case report.

Magalhães GCM et al.

American Heart Journal Plus : Cardiology Research and Practice, 2024

Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.

Chiaro G et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2024

Cardiac Structural and Functional Consequences of Amyloid Deposition by Cardiac Magnetic Resonance and Echocardiography and Their Prognostic Roles.

Knight DS et al.

Jacc. Cardiovascular Imaging, 2019

Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS).

Cruz MW et al.

Arquivos De Neuro-psiquiatria, 2019

Magnetic Resonance in Transthyretin Cardiac Amyloidosis.

Martinez-Naharro A et al.

Journal of the American College of Cardiology, 2017

Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis.

Fontana M et al.

Circulation, 2015

Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy.

Lavigne Moreira C et al.

Journal of the Peripheral Nervous System : Jpns, 2015

Native T1 mapping in transthyretin amyloidosis.

Fontana M et al.

Jacc. Cardiovascular Imaging, 2014

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