Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.A746V
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RECQL4

NM_004260.4:p.A746V

Associated Papers

Nonsyndromic craniosynostosis: novel coding variants.

Sewda A et al.

Pediatric Research, 2019

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

Flück CE et al.

Frontiers in Genetics, 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 › 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."