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Polymorphisms identified in 4,786 F508del CFTR alleles.

NIAID Data Ecosystem2026-05-02 收录

囊性纤维化基因多态性

CFTR药物研究

数据链接：

https://figshare.com/articles/dataset/Polymorphisms_identified_in_4_786_F508del_CFTR_alleles_/26330244 数据链接链接失效反馈

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资源简介：

Polymorphisms identified in 4,786 F508del CFTR alleles.

应用场景：

创建时间：

2024-07-18

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

Phospho-sites identified in mouse CFTR expressed in yeast.

蛋白质磷酸化位点鉴定

CFTR药物研究

Phospho-sites identified in mouse CFTR expressed in yeast.

NIAID Data Ecosystem50

Supplementary Material for: INTRAUTERINE TREATMENT IN TWO FETUSES AFFECTED BY CYSTIC FIBROSIS.TO WHOM AND SINCE WHEN?REPORT OF CASES.

囊性纤维化宫内治疗

CFTR药物研究

Introduction: Cystic fibrosis (CF) is an autosomal recessive disease asociated to low survival disease into adulthood. The appearance of the cystic fibrosis transmembrane conductance regulator (CFTR)

Figshare2025-12-02 更新10

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

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

Polymorphisms identified in 4,786 F508del CFTR alleles.

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