数据库名称：CFTR-France Database
数据库简述：cystic fibrosis transmembrane regulator France Database
所属国家/地区：France
数据库主要信息：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.
建立年份：2017
联系信息：Contact information
University/Institution:
Institut Universitaire de Recherche Clinique
Address:
Molecular Genetic Laboratory for rare diseases and EA7402
IURC (Institut Universitaire de Recherche Clinique)
640 avenue du Doyen Gaston Giraud
34093 MONTPELLIER
FRANCE
City:
Province/State:
Country/Region:
France
Contact name (PI/Team):
Mireille Claustres
Contact email (PI/Helpdesk):
Mireille.Claustres@inserm.fr
