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 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

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."