The repository contain custom codes for the manuscript "Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy" by Sharma et al.
The project aims to identify differential expression pattern specific to a patient with NFATC2 mutation.
The repository includes two RMD files with the analyses performed for chondrocyte bulk RNAseq and PBMC scRNAseq. With the raw data we deposited on GEO (GSE193415) the code will reproduce the data and figures included in the manuscript.