@misc{indiciae1a90185343ab, title = {Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.}, author = {Yuri A Zarate and Seungjae Oh and Julie E Saldana Guzman and J Paige Matheny and Siobhan Belgarde and Jenny P Garzon and Carlos E Prada and Zoey Trueblood and Moin U Vera and Konstantin V Korotkov and Emilia Galperin}, year = {2026}, doi = {10.1002/ajmg.a.70293}, url = {https://pubmed.ncbi.nlm.nih.gov/42681542/}, note = {Source identifier: 42681542} }