Journal article
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
AE Horton, S Lunke, S Sadedin, AP Fennell, Z Stark
European Journal of Human Genetics | SPRINGERNATURE | Published : 2023
Grants
Funding Acknowledgements
Department of Health | National Health and Medical Research Council (NHMRC):GNT1113531.