Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.E209A
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MFN1

NM_033540.3:p.E209A

Associated Papers

A dominant negative mitofusin causes mitochondrial perinuclear clusters because of aberrant tethering.

Sloat SR et al.

Life Science Alliance, 2023

Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.

Li YJ et al.

Nature Communications, 2019

Structural basis for GTP hydrolysis and conformational change of MFN1 in mediating membrane fusion.

Yan L et al.

Nature Structural & Molecular Biology, 2018

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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."