KMT2D
NM_003482.4:p.R2095insFs
Huang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Priestley JRC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023