Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.L76L
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SMARCAL1

NM_014140.4:p.L76L

Associated Papers

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.

Bökenkamp A et al.

Pediatric Nephrology (berlin, Germany), 2005

[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome].

de Jong M et al.

Nederlands Tijdschrift Voor Geneeskunde, 2005

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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."