Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

Humans have approximately 20,000 human protein-coding genes, and the proteins they express span a concentration range of ~12 logs. Yet only 0.1% of proteins contribute to 99% of the total plasma ...

Patients were classified by phenotype and genotype and assessed by a range of validated scales in common use internationally. The cardiac phenotype was the most predominant one globally, affecting ...