| 标题 |
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE ‐ SWAS and Phenotype Expansion in Male Patients |
| 网址 | |
| DOI | |
| 其它 |
期刊:Clinical Genetics 作者:Yu Katata; Yukimune Okubo; Haruhiko Nakamura; Naoya Saijo; Masakiyo Hayasaka; et al 出版日期:2025-08-27 |
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(2025-6-4)