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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFV1

Variant:p.G380R

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NDUFV1

NM_007103.4:p.G380R

hg38:chr11:67611954 G>C

Associated Papers

Progressive spinal cord involvement in Leigh syndrome due to an NDUFV1 variant.

Finsterer J

Radiology Case Reports, 2025

41140551 (PubMed )

Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report.

Finsterer J

Cureus, 2024

39525154 (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."