Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.G85R
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CSF2

NM_000758.4:p.G85R

Associated Papers

An endogenous peptide marker differentiates SOD1 stability and facilitates pharmacodynamic monitoring in SOD1 amyotrophic lateral sclerosis.

Gertsman I et al.

Jci Insight, 2019

Computing disease-linked SOD1 mutations: deciphering protein stability and patient-phenotype relations.

Kumar V et al.

Scientific Reports, 2017

28680046 (PubMed )
Supplement: 41598_2017_4950_MOESM1_ESM.pdf

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study.

Miller TM et al.

The Lancet. Neurology, 2013

Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients.

Zetterström P et al.

Journal of Neurochemistry, 2011

Multiple missense mutations in the diazepam binding inhibitor (DBI) gene identified in schizophrenia but lack of disease association.

Niu N et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2004

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003

Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment.

Pramatarova A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2001

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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."