Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.N371K
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SMARCB1

NM_003073.5:p.N371K

Associated Papers

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Kehrer-Sawatzki H et al.

Familial Cancer, 2025

High-throughput screening of human genetic variants by pooled prime editing.

Herger M et al.

Cell Genomics, 2025

40120586 (PubMed )
Supplement: mmc5.xlsx › Table_supp_SMARCB1-VariantData

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Monroe GR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."