Varaico: Literature-Extracted Genetic Variants

Gene:DNA2
Variant:p.E262K
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DNA2

NM_001080449.3:p.E262K

Associated Papers

Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.

Eleftheriadou M et al.

Molecular Genetics & Genomic Medicine, 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."