Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.L845fs
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SMARCAL1

NM_014140.4:p.L845fs

Associated Papers

Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.

Milovanova A et al.

International Journal of Molecular Sciences, 2025

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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."