Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.G386D
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DNM1L

NM_012062.5:p.G386D

Associated Papers

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.

Han X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.

Li B et al.

Circulation, 2024

38362779 (PubMed )
Supplement: cir-149-1268-s001.pdf
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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."