Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature
AIM: To detect the pathogenic gene variant in a family with neurofibromatosis type 1 (NF1). METHODS: This patient with NF1 was sequenced using target sequence capture and high-throughput sequencing technology. After detecting the suspicious pathogenic variant type, the pathogenic variant sites of th...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Press of International Journal of Ophthalmology (IJO PRESS)
2023-01-01
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| Series: | International Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://ies.ijo.cn/en_publish/2023/1/20230107.pdf |