CFTR-France Database
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下载链接：
https://cftr.iurc.montp.inserm.fr/cftr
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资源简介：
We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years of experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis, and asymptomatic compound heterozygotes.
提供机构：
Institut Universitaire de Recherche Clinique
创建时间：
2018-01-27
