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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMARCAL1

Variant:p.R243delFs

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SMARCAL1

NM_014140.4:p.R243delFs

hg38:chr2:216415431 AGG>A

Associated Papers

Congenital and infantile nephrotic syndrome: genotype-phenotype associations.

Islam MS et al.

Pediatric Research, 2025

41339767 (PubMed )

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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."