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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFAF6

Variant:p.L78_A81delFs

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NDUFAF6

NM_152416.4:p.L78_A81delFs

hg38:chr8:95032019 ATGCTCCCTGC>A

Associated Papers

NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature.

Kim J et al.

Frontiers in Pediatrics, 2022

35664867 (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."