Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L32V
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TTR

NM_000371.4:p.L32V

Associated Papers

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

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Bhatt K et al.

Journal of the American Heart Association, 2024

39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf

Progressive Hereditary Transthyretin-Related Amyloidosis (ATTRv) Aggravated by ATTR Wild-Type and Complement Activation.

Mattig I et al.

Journal of Neuropathology and Experimental Neurology, 2022

Variable Presentation of Hereditary Transthyretin-Mediated Amyloidosis at a Single Center.

Hussain Y

Journal of Clinical Neuromuscular Disease, 2021

New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing.

Hinderhofer K et al.

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

A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family.

Martínez-Ulloa PL et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Crystal structure of the Mor protein of bacteriophage Mu, a member of the Mor/C family of transcription activators.

Kumaraswami M et al.

The Journal of Biological Chemistry, 2004

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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."