Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.V141I
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GRN

NM_002087.4:p.V141I

Associated Papers

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Millar Vernetti P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.

Nicolaou P et al.

Frontiers in Genetics, 2021

Mechanisms of granulin deficiency: lessons from cellular and animal models.

Kleinberger G et al.

Molecular Neurobiology, 2013

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C et al.

Plos One, 2012

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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."