Géraldine Greff
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View article: Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome Open
View article: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
View article: Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
Poorly covered amplicons (mean coverage
View article: Additional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Additional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
POLH founder mutation in Northern Spain. Haplotype analysis was performed on the 6 XP-variant patients coming from Northern Spain with mutations in the POLH gene (chr6:43,543,878-43,588,260[hg19]). Despite a genome wide study using the Ill…
View article: Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
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 ident…