Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC30
Variant:p.S44fs
Back to variants list

DNAJC30

NM_032317.3:p.S44fs

Associated Papers

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.

Lenaers G et al.

Brain : a Journal of Neurology, 2023

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.

Nesti C et al.

Journal of Neurology, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."