Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC19
Variant:p.F17delFs
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DNAJC19

NM_145261.4:p.F17delFs

Associated Papers

Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.

Jain S et al.

Genes, 2024

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

Plutino M et al.

Bmc Medical Genetics, 2018

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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."