Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.G139_T141del0
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DNM1

NM_004408.4:p.G139_T141del0

Associated Papers

Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.

Shin S et al.

Pediatric Neurology, 2023

Genotypes and phenotypes of DNM1 encephalopathy.

Kim J et al.

Journal of Medical Genetics, 2023

Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.

Kim SH et al.

The Journal of Molecular Diagnostics : Jmd, 2023

Analysis of trio test in neurodevelopmental disorders.

Kim SH et al.

Frontiers in Pediatrics, 2022

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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."