<script type="text/javascript">
<!--
document.write('<div id="oa_widget"></div>');
document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=undefined&type=result"></script>');
-->
</script>

COPY SCRIPT

For further information contact us at helpdesk@openaire.eu

Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Research datakeyboard_double_arrow_right Dataset 01 Jan 2016Publisher:Figshare

Authors: Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; +22 Authors

doi: 10.6084/m9.figshare.c.3609887_d1.v1 , 10.6084/m9.figshare.c.3609887_d1

Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

- Summary
- Related research
  (1)
- Metrics

Abstract

Spectrum of previously identified variations within the validation cohort of 11 patients. 11 patients already tested by Sanger sequencing of ERCC6(CSB) and/or ERCC8(CSA) genes were explored by targeted NGS strategy. All 63 previously identified single base variations were identified in their correct heterozygous/homozygous state. A heterozygous 4.6 Mb deletion of chromosome 10q11, encompassing the whole ERCC6(CSB) gene, was clearly detected but the method was not sensitive enough to detect an ERCC6(CSB) deletion limited to the first two exons of the gene. (XLSX 14 kb)

1 Research products, page 1 of 1

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
2016IsSupplementTo

Impact byBIP!

	citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	0
	popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.	Average
	influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	Average
	impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.	Average

Found an issue? Give us feedback

Average

Related to Research communities

Knowmad Institut

Cancer Research