Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC19
Variant:p.A101fs
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DNAJC19

NM_145261.4:p.A101fs

Associated Papers

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

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."