Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.E208D
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ABCB7

NM_001271696.3:p.E208D

Associated Papers

Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.

Pearson SA et al.

Archives of Biochemistry and Biophysics, 2021

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review.

Xiong S et al.

Frontiers in Pediatrics, 2021

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Crystal structures of nucleotide-free and glutathione-bound mitochondrial ABC transporter Atm1.

Srinivasan V et al.

Science (new York, N.y.), 2014

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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."