Varaico: Literature-Extracted Genetic Variants

Gene:SF3B3
Variant:p.N671S
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SF3B3

NM_012426.5:p.N671S

Associated Papers

A novel spliceosomopathy caused by de novo SF3B3 variants.

Musante L et al.

Genome Medicine, 2026

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

Costain G et al.

Jama Network Open, 2020

32960281 (PubMed )
Supplement: jamanetwopen-e2018109-s001.pdf
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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."