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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SF3B3

Variant:p.K126E

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SF3B3

NM_012426.5:p.K126E

hg38:chr16:70529178 A>G

Associated Papers

A novel spliceosomopathy caused by de novo SF3B3 variants.

Musante L et al.

Genome Medicine, 2026

41709284 (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."