Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.S280R
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SMARCAL1

NM_014140.4:p.S280R

Associated Papers

Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas.

Palomero T et al.

Nature Genetics, 2014

24413734 (PubMed )
Supplement: NIHMS549899-supplement-2.xlsx › Supplementary_Table_3

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

Elizondo LI et al.

Journal of Medical Genetics, 2009

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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."