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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMARCB1

Variant:p.K160delFs

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SMARCB1

NM_003073.5:p.K160delFs

hg38:chr22:23801058 CA>C

Associated Papers

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.

Holsten T et al.

European Journal of Human Genetics : Ejhg, 2018

29706634 (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."