project . 2018 - 2023
Funder: WT Project Code: 210585
Funder Contribution: 3,200,000 GBP
Open Access mandate for Publications
Partners: University of Tuebingen, University College London
Background: Over 1,800 autosomal recessive (AR) Mendelian-disease genes have been identified. Missense mutations account for 59% of protein coding region mutations, yet their precise functional effects remain largely uncharacterized. Two important questions in human gen...