Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.Y125H
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TTR

NM_000371.4:p.Y125H

Associated Papers

Hereditary transthyretin amyloidosis with cardiomyopathy and polyneuropathy associated with a novel pathogenic TTR Tyr105His (p.Tyr125His) mutation.

Nakamori M et al.

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

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf
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