共 50 条
- [3] Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2015, 236 (02): : 103 - 106
- [5] The high phenotypic variability of RYR1 gene mutations M S-MEDECINE SCIENCES, 2023, 38 : 46 - 48