Varaico: Literature-Extracted Genetic Variants

Gene:TOPBP1
Variant:p.R1154*
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TOPBP1

NM_007027.4:p.R1154*

Associated Papers

Patient-specific and gene-corrected induced pluripotent stem cell-derived endothelial cells elucidate single-cell phenotype of pulmonary veno-occlusive disease.

Ma B et al.

Stem Cell Reports, 2022

36400028 (PubMed )
Supplement: mmc2.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."