Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R751Q
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RECQL4

NM_004260.4:p.R751Q

Associated Papers

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Malmgren H et al.

Frontiers in Genetics, 2025

40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Comparative genomic analysis of primary tumors and metastases in breast cancer.

Bertucci F et al.

Oncotarget, 2016

27028851 (PubMed )
Supplement: oncotarget-07-27208-s001.pdf
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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."