Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R522H
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RECQL4

NM_004260.4:p.R522H

Associated Papers

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Priedigkeit N et al.

Breast Cancer Research : Bcr, 2021

33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Nonsyndromic craniosynostosis: novel coding variants.

Sewda A et al.

Pediatric Research, 2019

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.

Jensen MB et al.

Aging, 2012

The mutation spectrum in RECQL4 diseases.

Siitonen HA et al.

European Journal of Human Genetics : Ejhg, 2009

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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."