Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.R820L
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SMARCAL1

NM_014140.4:p.R820L

Associated Papers

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

Lipska-Ziętkiewicz BS et al.

Plos One, 2017

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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."