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Defining pathogenicity of <scp> <i>NOTCH2</i> </scp> variants for diagnosis of Alagille syndrome type 2 using a large cohort of patientsZhong‐Die Li, Jian‐She Wang, Kuerbanjiang Abuduxikuer et al.|Liver International|2022Cited by 8
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese PatientX Zhang, Yi Lu, Jing Zhang|Human Mutation|2024Cited by 3