@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 2024/12/26}}}