Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.L416P
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DNM1L

NM_012062.5:p.L416P

Associated Papers

Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations.

Manting X et al.

Frontiers in Pediatrics, 2025

Evaluating the association between DNM1L variants and Parkinson's disease in the Chinese population.

Liu J et al.

Frontiers in Neurology, 2023

Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.

Kim SH et al.

Pediatric Neurology, 2019

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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."