By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
In a study published in the online edition of Proceedings of the National Academy of Sciences on Jan. 23, 2023, a team of scientists from Frederick National Laboratory for Cancer Research and the University of California, San Francisco (UCSF) described how neurofibromin 1 (NF1) missense mutations act in a dominant negative manner through dimerization with wild-type neurofibromin.
