| Autor: |
Bichen, Lin, Yang, Liu, Lanxin, Su, Hangbo, Liu, Hailan, Feng, Miao, Yu, Haochen, Liu |
| Rok vydání: |
2022 |
| Zdroj: |
Diagnostics (Basel, Switzerland). 12(12) |
| ISSN: |
2075-4418 |
| Popis: |
The goal of the current study was to identify the pathogenic gene variant in a Chinese family with Blepharocheilodontic (BCD) syndrome. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variant. The harmfulness of the variant was predicted by bioinformatics. We identified a novel heterozygous missense variant c.1198Ggt;A (p.Asp400Asn) in the |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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