Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.E368K
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DNM1

NM_004408.4:p.E368K

Associated Papers

Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.

Laiman J et al.

Current Opinion in Cell Biology, 2023

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.

Hayes LH et al.

Neurology. Genetics, 2022

Crystal structure of the dynamin tetramer.

Reubold TF et al.

Nature, 2015

Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

Chen T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015

Dynamin-2 function and dysfunction along the secretory pathway.

González-Jamett AM et al.

Frontiers in Endocrinology, 2013

Structural insights into dynamin-mediated membrane fission.

Faelber K et al.

Structure (london, England : 1993), 2012

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

Mori-Yoshimura M et al.

Clinical Neurology and Neurosurgery, 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J et al.

Human Mutation, 2012

Crystal structure of nucleotide-free dynamin.

Faelber K et al.

Nature, 2011

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.

Kenniston JA et al.

The Embo Journal, 2010

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M et al.

Nature Genetics, 2005

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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."