Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC19
Variant:p.S46ins4
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DNAJC19

NM_145261.4:p.S46ins4

Associated Papers

Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.

Janz A et al.

Molecular Metabolism, 2024

Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.

Janz A et al.

Stem Cell Research, 2020

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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."