Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria
| Title: | Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria |
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| Authors: | Chen, Jun a, 1, ⁎, Li, Xiao-ping a, 1, Luo, Guang-jin a, 1, Yu, Xiao-ming a, Liu, Qiu-yan a, Peng, Min b, Hou, Mei a, ⁎⁎ |
| Source: | In European Journal of Medical Genetics February 2025 73 |
| Database: | ScienceDirect |
| ISSN: | 17697212 |
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| DOI: | 10.1016/j.ejmg.2024.104991 |
| Published in: | European Journal of Medical Genetics |
| Language: | English |