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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNM1L

Variant:p.T586K

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DNM1L

NM_012062.5:p.T586K

hg38:chr12:32740113 C>A

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 )

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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."