Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.E116fs
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DNM1L

NM_012062.5:p.E116fs

Associated Papers

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

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

Nasca A et al.

Human Mutation, 2016

27328748 (PubMed )
Supplement: HUMU-37-898-s001.pdf
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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."