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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNM1L

Variant:p.E583fs

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DNM1L

NM_012062.5:p.E583fs

hg38:chr12:32740103 GAA>N

Associated Papers

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Magistrati M et al.

International Journal of Molecular Sciences, 2025

39859560 (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."