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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFS1

Variant:p.K592_A594del0

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NDUFS1

NM_005006.7:p.K592_A594del0

hg38:chr2:206127897 GTAGCAGACT>G

Associated Papers

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2025

40898337 (PubMed )

Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Other_rare_groups

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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."