Associated Papers
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
van Walree ES et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32820247 (PubMed )
Supplement: NIHMS1767016-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
Asparagine synthetase: Function, structure, and role in disease.
Lomelino CL et al.
The Journal of Biological Chemistry, 2017
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