Identify and experimentally validate a gene and the mutations in that gene that seem to cause a human monogenic disease

Paper details:

– USE Vancouver style references and high impact journals. – please don’t skip the questions. solve them all and follow all instructions carefully – see previous year assignment and pay attention to the comments so you don’t do the same mistakes – answer each question alone and put subheadings for each answer. don’t combine the answers. divide into sections. – no plagiarism