Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.F702V
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SMARCAL1

NM_014140.4:p.F702V

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

Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.

Lücke T et al.

Pediatric Transplantation, 2009

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Clewing JM et al.

Human Mutation, 2007

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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."