Varaico: Literature-Extracted Genetic Variants

Gene:GSN
Variant:p.L218L
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GSN

NM_000177.5:p.L218L

Associated Papers

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disorders.

Roldán-Sevilla A et al.

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

A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.

Mullany S et al.

Human Mutation, 2021

Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.

Mustonen T et al.

European Journal of Human Genetics : Ejhg, 2018

The IC3D classification of the corneal dystrophies.

Weiss JS et al.

Cornea, 2008

Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene.

Chastan N et al.

Muscle & Nerve, 2006

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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."