Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN5
Variant:p.R494W
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SPTBN5

NM_016642.4:p.R494W

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."