Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC19
Variant:p.Y21delFs
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DNAJC19

NM_145261.4:p.Y21delFs

Associated Papers

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

Jain S et al.

Genes, 2024

Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.

Papadopoulou-Legbelou K et al.

Case Reports in Genetics, 2024

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.

Al Tuwaijri A et al.

Molecular Genetics & Genomic Medicine, 2022

DNAJ Proteins in neurodegeneration: essential and protective factors.

Zarouchlioti C et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

Ucar SK et al.

Jimd Reports, 2017

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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."