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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMARCAL1

Variant:p.D366Splc

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SMARCAL1

NM_014140.4:p.D366Splc

hg38:chr2:216423631 A>G

Associated Papers

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto M et al.

Orphanet Journal of Rare Diseases, 2012

22998683 (PubMed )

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Clewing JM et al.

Human Mutation, 2007

17089404 (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."