Publications:

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 31G>A; Val11Ile; rs1800072

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

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Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-01-21

Variant appearance in text: CFTR: 31G>A; Val11Ile

PubMed Link: 35072004

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs1800072

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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More Unnecessary Imaginary Worlds - Part 3: Cystic Fibrosis and the Institute for Clinical and Economic Review's Draft Evidence Report.

Innovations In Pharmacy

Langley, Paul C PC

Publication Date: 2020

Variant appearance in text: CFTR: v11i

PubMed Link: 34017638

Variant Present in the following documents:

• Main text
• 21550417-11-01-3056.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CFTR: 31G>A; Val11Ile; rs1800072

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.

Indian Journal Of Clinical Biochemistry : Ijcb

Dixit, Pratibha P; Awasthi, Shally S; Maurya, Nutan N; Agarwal, Sarita S; Srinivasan, M M

Publication Date: 2015-01

Variant appearance in text: CFTR: V11I

PubMed Link: 25646039

Variant Present in the following documents:

• Main text

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Association of CFTR gene mutation with bronchial asthma.

The Indian Journal Of Medical Research

Maurya, Nutan N; Awasthi, Shally S; Dixit, Pratibha P

Publication Date: 2012-04

Variant appearance in text: CFTR: V11I

PubMed Link: 22664493

Variant Present in the following documents:

• Main text
• IJMR-135-469.pdf

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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine

George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R

Publication Date: 2008-01

Variant appearance in text: rs1800072

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A

Publication Date: 2005-05

Variant appearance in text: CFTR: V11I

PubMed Link: 15858154

Variant Present in the following documents:

• Main text

View BVdb publication page

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