Varaico: Literature-Extracted Genetic Variants

Gene:GLRX5
Variant:p.Q98Q
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GLRX5

NM_016417.3:p.Q98Q

Associated Papers

Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.

Zhang W et al.

Biophysics Reports, 2021

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.

Maio N et al.

Trends in Biochemical Sciences, 2020

Lipoic acid biosynthesis defects.

Mayr JA et al.

Journal of Inherited Metabolic Disease, 2014

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Baker PR et al.

Brain : a Journal of Neurology, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.

Ye H et al.

Biochemistry, 2010

Iron-sulfur proteins in health and disease.

Sheftel A et al.

Trends in Endocrinology and Metabolism: Tem, 2010

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts.

Ye H et al.

The Journal of Clinical Investigation, 2010

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

Camaschella C et al.

Blood, 2007

Iron-Sulfur Protein Assembly in Human Cells.

Saha PP et al.

Reviews of Physiology, Biochemistry and Pharmacology, 0

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