Lethal phenotypes in Mendelian disorders
Pilar Cacheiro, Samantha Lawson, Ignatia B. Van den Veyver, Gabriel Marengo, David Zocche, Stephen A. Murray, Michael Duyzend, Peter N. Robinson, Damian P. Smedley
This paper curates human essential genes based on lethality in Mendelian disorders and explores their relationships with constraint metrics and viability data.
Genetics in Medicine · Apr 15, 2024Peer-reviewedGenetic & Genomic Medicine