Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.A20A
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NPPB

NM_002521.3:p.A20A

Associated Papers

Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.

Hewitt K et al.

Open Heart, 2024

Treatment characteristics of patients with hereditary transthyretin amyloidosis: a cohort study.

Qarni TN et al.

Orphanet Journal of Rare Diseases, 2024

Cardiac Amyloidosis Due to Transthyretin Protein: A Review.

Ruberg FL et al.

Jama, 2024

Extending the reach of expert amyloidosis care: A feasibility study exploring the staged implementation of a UK amyloidosis network.

Choy CH et al.

Clinical Medicine (london, England), 2024

Clinical Importance of Left Atrial Infiltration in Cardiac Transthyretin Amyloidosis.

Bandera F et al.

Jacc. Cardiovascular Imaging, 2022

Recent advances in the diagnosis and management of amyloid cardiomyopathy.

Nijst P et al.

Faculty Reviews, 2021

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations.

Conceição I et al.

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

Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis.

Gertz MA et al.

Journal of the American College of Cardiology, 2015

Transthyretin (TTR) cardiac amyloidosis.

Ruberg FL et al.

Circulation, 2012

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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."