Varaico: Literature-Extracted Genetic Variants

Gene:UTRN
Variant:p.D146N
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UTRN

NM_007124.3:p.D146N

Associated Papers

Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.

Baum TB et al.

Biorxiv : the Preprint Server for Biology, 2024

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.

Nolden KA et al.

Life Science Alliance, 2022

35914810 (PubMed )
Supplement: LSA-2021-01284_TableS1.xlsx › Sheet1

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Lhuissier C et al.

Frontiers in Neurology, 2022

Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.

Sharma G et al.

Biology, 2021

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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."