Varaico: Literature-Extracted Genetic Variants

Gene:PUM3
Variant:p.F53S
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PUM3

NM_014878.5:p.F53S

Associated Papers

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Azab B et al.

Molecular Medicine Reports, 2022

35514310 (PubMed )
Supplement: Supplementary_Data.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."