Varaico: Literature-Extracted Genetic Variants

Gene:DNA2
Variant:p.Q630*
Back to variants list

DNA2

NM_001080449.3:p.Q630*

Associated Papers

DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.

Sun J et al.

Journal of Human Genetics, 2022

Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype-phenotype correlation.

Phowthongkum P et al.

Neuromuscular Disorders : Nmd, 2017

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Chae JH et al.

Journal of Medical Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."