Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.E129K
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DNM1L

NM_001278464.2:p.E129K

Associated Papers

Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.

Osawa MT et al.

Pediatric Research, 2025

40269254 (PubMed )
Supplement: 41390_2025_4045_MOESM16_ESM.pdf

DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction.

Hogarth KA et al.

Biochemical Genetics, 2018

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Yoon G et al.

The Journal of Pediatrics, 2016

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