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Polymorphisms associated with the CFTR gene according to asthma severity.

Figshare2021-06-04 更新2026-04-28 收录

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https://figshare.com/articles/dataset/Polymorphisms_associated_with_the_i_CFTR_i_gene_according_to_asthma_severity_/14733026 数据链接链接失效反馈

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Polymorphisms associated with the CFTR gene according to asthma severity.

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创建时间：

2021-06-04

纤维化治疗

CFTR药物研究

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, encoding for a chloride ion channel. Membrane expression of CFTR is negatively regul

NIAID Data Ecosystem70

Minimal data set.

CFTR药物研究

腹泻治疗

Secretory diarrhea, a major global health concern, particularly among young children, is often characterized by excessive chloride secretion through the cystic fibrosis transmembrane conductance regul

NIAID Data Ecosystem30

Chronic and acute modulator treatment restore wild-type-like activity and stability to the primary cystic fibrosis-causing CFTR variant

纤维化治疗

CFTR药物研究

This is the data set for a manuscript reporting the action of elexacaftor-tezacaftor-ivacaftor on the channel function of the predominant cystic fibrosis-causing CFTR variant F508del-CFTR.

DataCite Commons2025-12-08 更新20

Additional file 1 of Frequency of allele variations in the CFTR gene in a Mexican population

CFTR药物研究

群体遗传学

Additional file 1: Table S1. Minor allele frequencies (MAF) of the 361 genotyped CFTR variants in a Mexican population. The table shows dbSNP ID, DNA HGVS ID, PROTEIN HGVS ID, Variant type, Clinical s

NIAID Data Ecosystem50

Characterization of Defects in Ion Transport and Tissue Development in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-Knockout Rats

囊性纤维化动物模型

CFTR药物研究

Animal models for cystic fibrosis (CF) have contributed significantly to our understanding of disease pathogenesis. Here we describe development and characterization of the first cystic fibrosis rat,

NIAID Data Ecosystem30

Polymorphisms associated with the CFTR gene according to asthma severity.

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