Varaico: Literature-Extracted Genetic Variants

Gene:FBXO41
Variant:p.R464C
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FBXO41

NM_001371389.2:p.R464C

Associated Papers

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

Desai A et al.

Bmc Musculoskeletal Disorders, 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."