Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC30
Variant:p.R93P
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DNAJC30

NM_032317.3:p.R93P

Associated Papers

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.

Kieninger S et al.

Journal of Medical Genetics, 2022

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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."