Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.Q173*
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RECQL4

NM_004260.4:p.Q173*

Associated Papers

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Maciaszek JL et al.

Cold Spring Harbor Molecular Case Studies, 2019

31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S4

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

Candidate luminal B breast cancer genes identified by genome, gene expression and DNA methylation profiling.

Cornen S et al.

Plos One, 2014

24416132 (PubMed )
Supplement: pone.0081843.s021.xlsx › Table_S5B

Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors.

Uno K et al.

Genes, Chromosomes & Cancer, 2002

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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."