@inproceedings{inproceedings, title = {{Deep phenotyping of biallelic HACE1 variants}}, url = {{}}, year = {{2022}}, month = {{4}}, author = {{Griffin M and Balasubramanian M and Blyth M and Dixit A and Turnpenny PD and Suri M}}, volume = {{30}}, journal = {{EUROPEAN JOURNAL OF HUMAN GENETICS}}, issue = {{SUPPL 1}}, pages = {{280-281}}, note = {{Accessed on 2025/05/29}}}