Varaico: Literature-Extracted Genetic Variants

Gene:SFN
Variant:p.V30M
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SFN

NM_006142.5:p.V30M

Associated Papers

Diagnostic & therapeutic challenges of presymptomatic hereditary transthyretin amyloidosis.

Echaniz-Laguna A et al.

Revue Neurologique, 2025

Description of peripheral nervous system involvement in wild-type transthyretin amyloidosis: A clinical and electrophysiological study.

Barriol R et al.

Revue Neurologique, 2025

Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression.

Adams D et al.

Orphanet Journal of Rare Diseases, 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

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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."