Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R355W
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RECQL4

NM_004260.4:p.R355W

Associated Papers

The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.

Bille A et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023

Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.

Karagün E et al.

International Journal of Dermatology, 2020

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 2018

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 › UK10K_AR
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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."