Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.Y765H
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SF3B1

NM_012433.4:p.Y765H

Associated Papers

SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.

Tang Q et al.

Genes & Development, 2016

28087715 (PubMed )
Supplement: supp_30.24.2710_Supplemental_Material.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."