Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Cited by 53 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome;The Cleft Palate-Craniofacial Journal;2022-09-09
2. Etiology and Anatomical Variation in Treacher Collins Syndrome;Craniofacial Microsomia and Treacher Collins Syndrome;2022
3. Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia;The Cleft Palate-Craniofacial Journal;2021-08-19
4. Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome;The Cleft Palate-Craniofacial Journal;2021-08-16
5. The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome;International Journal of Molecular Sciences;2021-03-01
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