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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFS8

Variant:p.A130_E131del2

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NDUFS8

NM_002496.4:p.A130_E131del2

hg38:chr11:68036264 CGAGGCT>C

Associated Papers

Expanding the phenotype of DNAJC30-associated Leigh syndrome.

Zawadzka M et al.

Clinical Genetics, 2022

35861300 (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."