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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNAJC30

Variant:p.N158_R159insA

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DNAJC30

NM_032317.3:p.N158_R159insA

hg38:chr7:73682952 T>TNNN

Associated Papers

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Stenton SL et al.

The Journal of Clinical Investigation, 2021

33465056 (PubMed )

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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."