Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF5
Variant:p.F240L
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ARHGEF5

NM_005435.4:p.F240L

Associated Papers

Structural analysis on mutation residues and interfacial water molecules for human TIM disease understanding.

Li Z et al.

Bmc Bioinformatics, 2013

Triosephosphate isomerase deficiency: new insights into an enigmatic disease.

Orosz F et al.

Biochimica Et Biophysica Acta, 2009

Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface.

Rodríguez-Almazán C et al.

The Journal of Biological Chemistry, 2008

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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."