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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PUM1

Variant:p.H1090fs

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PUM1

NM_001020658.2:p.H1090fs

hg38:chr1:30936810 GTG>N

Associated Papers

PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin.

Elagooz R et al.

Blood Advances, 2022

35667093 (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."