Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.G385D
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DNM1L

NM_012062.5:p.G385D

Associated Papers

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

Whitley BN et al.

Human Molecular Genetics, 2018

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Chao YH et al.

Human Molecular Genetics, 2016

Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein.

Fröhlich C et al.

The Embo Journal, 2013

New insights into the function and regulation of mitochondrial fission.

Otera H et al.

Biochimica Et Biophysica Acta, 2013

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.

Ashrafian H et al.

Plos Genetics, 2010

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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."