Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.N346_T347del2
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DNM1L

NM_012062.5:p.N346_T347del2

Associated Papers

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Nasca A et al.

Human Mutation, 2016

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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."