Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.S92F
Back to variants list

RECQL4

NM_004260.4:p.S92F

Associated Papers

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.

Lin FY et al.

Cold Spring Harbor Molecular Case Studies, 2016

27626068 (PubMed )
Supplement: supp_mcs.a001057_Supplemental_Tables_1-2.pdf

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA et al.

Molecular Genetics & Genomic Medicine, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."