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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD6

Variant:p.L9fs

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SMAD6

NM_005585.5:p.L9fs

hg38:chr15:66703283 CTG>N

Associated Papers

SMAD6-deficiency in human genetic disorders.

Luyckx I et al.

Npj Genomic Medicine, 2022

36414630 (PubMed )

Supplement: 41525_2022_338_MOESM2_ESM.xlsx › Suppl_Table1

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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."