Varaico: Literature-Extracted Genetic Variants

Gene:GSN
Variant:p.G194R
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GSN

NM_000177.5:p.G194R

Associated Papers

Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions.

Mendelson L et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023

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

Mullany S et al.

Human Mutation, 2021

Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.

Cheong EN et al.

Yonsei Medical Journal, 2021

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.

Potrč M et al.

International Journal of Molecular Sciences, 2021

Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer's Disease.

Jiang Y et al.

Frontiers in Aging Neuroscience, 2020

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

Mustonen T et al.

European Journal of Human Genetics : Ejhg, 2018

Renal amyloidosis associated with a novel sequence variant of gelsolin.

Sethi S et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2013

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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."