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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMARCC2

Variant:p.K364delFs

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SMARCC2

NM_001330288.2:p.K364delFs

hg38:chr12:56179046 CT>C

Associated Papers

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Ibrahim AA et al.

Bmc Medical Genomics, 2025

41291750 (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."