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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD6

Variant:p.P272S

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SMAD6

NM_005585.5:p.P272S

hg38:chr15:66704072 C>T

Associated Papers

Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.

Theis JL et al.

Circulation. Genomic and Precision Medicine, 2021

33325730 (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."