Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.S280C
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SMARCAL1

NM_014140.4:p.S280C

Associated Papers

Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.

Oak N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2025

Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.

Oak N et al.

Medrxiv : the Preprint Server for Health 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."