Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.P103L
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RECQL4

NM_004260.4:p.P103L

Associated Papers

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.

Pasca S et al.

Haematologica, 2024

37731390 (PubMed )
Supplement: 2023_283886_PASCA_SUPPL.pdf

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Bukowska-Olech E et al.

Frontiers in Molecular Biosciences, 2022

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.

Bukowska-Olech E et al.

Scientific Reports, 2020

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.

Wieben ED et al.

Investigative Ophthalmology & Visual Science, 2019

31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM5_ESM.xlsx › SNV_Indel

Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Nicolas E et al.

Molecular Genetics & Genomic Medicine, 2019

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_AR

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Wang LL et al.

Journal of the National Cancer Institute, 2003

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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."