Additional file 1 of Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes
Makaleler > Tam Makale · 2022
Yazarlar: Gautheron, Jérémie, Lima, Lara, Akinci, Baris, Zammouri, Jamila, Auclair, Martine, Ucar, Sema Kalkan, Ozen, Samim, Altay, Canan, Bax, Bridget E., Nemazanyy, Ivan, Lenoir, Véronique, Prip-Buus, Carina, Acquaviva-Bourdain, Cécile, Lascols, Olivier, Fève, Bruno, Vigouroux, Corinne, Noel, Esther, Jéru, Isabelle
Figshare, Uluslararası, 2022
DOI: 10.6084/m9.figshare.19428647
Özet
Additional file 1: Table S1. Prediction of pathogenicity of variants identified in TYMP. Bioinformatic tools used to predict the pathogenicity of splice site and missense variants are not the same. CADD: Combined Annotation Dependent Depletion; SIFT: Sorting Intolerant From Tolerant; SPiP: Splicing Prediction Pipeline.