Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
about
Alteration of protein function by a silent polymorphism linked to tRNA abundance.CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.Novel long-range regulatory mechanisms controlling PKD2 gene expression.
P2860
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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name
Deep resequencing of CFTR in 7 ...... ystic fibrosis disease traits.
@en
Deep resequencing of CFTR in 7 ...... ystic fibrosis disease traits.
@nl
type
label
Deep resequencing of CFTR in 7 ...... ystic fibrosis disease traits.
@en
Deep resequencing of CFTR in 7 ...... ystic fibrosis disease traits.
@nl
prefLabel
Deep resequencing of CFTR in 7 ...... ystic fibrosis disease traits.
@en
Deep resequencing of CFTR in 7 ...... ystic fibrosis disease traits.
@nl
P2093
P2860
P356
P1476
Deep resequencing of CFTR in 7 ...... cystic fibrosis disease traits
@en
P2093
Arianna L Franca
Briana Vecchio-Pagán
Garry R Cutting
Karen S Raraigh
Melis Atalar
Melissa Lee
Michael R Knowles
Neeraj Sharma
Rhonda G Pace
P2860
P2888
P356
10.1038/HGV.2016.38
P577
2016-11-24T00:00:00Z