2 research outputs found
Additional file 1: of KBG syndrome
Reported intragenic variants in the ANKRD11 gene. (XLSX 13 kb
Additional file 2: of Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing
Document, containing: Methods - Sample selection, PCR primers, analysis pipeline; Results - Table S2. - C/T mutation rate, Figure S2. – Variant Allele Frequency compared to SM score, Tables S4-S6. – Sensitivity and specificity calculations, Table S7. – frequencies of the SMs in the normal population. (DOCX 185 kb