Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: CFTR: I556V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Journal Of Clinical Medicine

Koumpagioti, Despoina D; Moriki, Dafni D; Boutopoulou, Barbara B; Matziou, Vasiliki V; Loukou, Ioanna I; Priftis, Kostas N KN; Douros, Konstantinos K

Publication Date: 2023-03-21

Variant appearance in text: CFTR: I556V

PubMed Link: 36983403

Variant Present in the following documents:

• Main text
• jcm-12-02403.pdf

View BVdb publication page

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Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports

Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H

Publication Date: 2023-01-05

Variant appearance in text: CFTR: 1666A>G; Ile556Val

PubMed Link: 36604502

Variant Present in the following documents:

• 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Inferring bona fide Differentially Expressed Genes and Their Variants Associated with Vitamin K Deficiency Using a Systems Genetics Approach.

Genes

Rajagopal, Shalini S; Sharma, Akanksha A; Simlot, Anita A; Mathur, Praveen P; Mehta, Sudhir S; Mehta, Sumita S; Naravula, Jalaja J; Medicherla, Krishna Mohan KM; Kumar, Anil A; Kanga, Uma U; Suravajhala, Renuka R; Bhandari, Ramji Kumar RK; Nair, Bipin G BG; Kishor, P B Kavi PBK; Suravajhala, Prashanth P

Publication Date: 2022-11-09

Variant appearance in text: rs75789129

PubMed Link: 36360315

Variant Present in the following documents:

• Main text
• genes-13-02078.pdf

View BVdb publication page

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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 1666A>G; Ile556Val

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

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Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Frontiers In Genetics

Zhou, Yuan-Yuan YY; Du, Yu-Fang YF; Lu, Qing Q; Zhai, Xiu-Zhang XZ; Shi, Ming-Fang MF; Chen, Dan-Yun DY; Liu, Sun-Rong SR; Zhong, Ying Y

Publication Date: 2022

Variant appearance in text: CFTR: 1666A>G; Ile556Val; rs75789129

PubMed Link: 35464846

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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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: 1666A>G; I556V; rs75789129

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Congenital Bilateral Absence of the Vas Deferens.

Frontiers In Genetics

Cai, Zhonglin Z; Li, Hongjun H

Publication Date: 2022

Variant appearance in text: CFTR: I556V

PubMed Link: 35222530

Variant Present in the following documents:

• Main text
• fgene-13-775123.pdf

View BVdb publication page

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A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Bmc Urology

Zou, Ci C; Yu, Dexin D; Geng, Hao H; Lan, Xiaofeng X; Sun, Wei W

Publication Date: 2022-02-02

Variant appearance in text: CFTR: Ile556Val

PubMed Link: 35109852

Variant Present in the following documents:

• Main text
• 12894_2022_Article_965.pdf

View BVdb publication page

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A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Bmc Urology

Zou, Ci C; Yu, Dexin D; Geng, Hao H; Lan, Xiaofeng X; Sun, Wei W

Publication Date: 2022-02-02

Variant appearance in text: CFTR: Ile556Val

PubMed Link: 35109852

Variant Present in the following documents:

• Main text
• 12894_2022_Article_965.pdf

View BVdb publication page

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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: I556V

PubMed Link: 35072004

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs75789129

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 1666A>G

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 1666A>G

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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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: rs75789129

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.

Frontiers In Pediatrics

Liu, Yu-Xing YX; Zhang, Ai-Qian AQ; Luo, Fang-Mei FM; Sheng, Yue Y; Wang, Chen-Yu CY; Dong, Yi Y; Fan, Liangliang L; Liu, Lv L

Publication Date: 2021

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 34408996

Variant Present in the following documents:

• Main text
• fped-09-687455.pdf

View BVdb publication page

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Allergic bronchopulmonary Aspergillosis in children.

Turkish Journal Of Medical Sciences

Atay, Özge Ö; Asilsoy, Suna S; Atakul, Gizem G; Al, Serdar S; Boyacıoğlu, Özge Kangallı ÖK; Uzuner, Nevin N; Karaman, Özkan Ö

Publication Date: 2021-10

Variant appearance in text: CFTR: I556V

PubMed Link: 34174797

Variant Present in the following documents:

• turkjmedsci-51-2554.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: CFTR: Ile556Val; rs75789129

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.

International Journal Of Neonatal Screening

Bergougnoux, Anne A; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-03

Variant appearance in text: CFTR: I556V

PubMed Link: 33073020

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: CFTR: I556V

PubMed Link: 33003980

Variant Present in the following documents:

• Main text
• JAH3-9-e016799.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: I556V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International

Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2020

Variant appearance in text: CFTR: I556V; rs75789129

PubMed Link: 32624706

Variant Present in the following documents:

• 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes

Bienvenu, Thierry T; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-06-04

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

View BVdb publication page

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Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.

Clinical And Translational Gastroenterology

Wang, Wei W; Xiao, Yuan Y; Wang, Xinqiong X; Zhou, Yiran Y; Wang, Ting T; Xv, Chundi C; Shen, Bai-Yong BY

Publication Date: 2020-03

Variant appearance in text: CFTR: I556V; rs75789129

PubMed Link: 32352720

Variant Present in the following documents:

• ct9-11-e00150.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases

Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M

Publication Date: 2019-08-06

Variant appearance in text: CFTR: 1666A>G

PubMed Link: 31423445

Variant Present in the following documents:

• Main text
• WJCC-7-2110.pdf

View BVdb publication page

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The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.

Nature Communications

Katayama, Ryohei R; Gong, Bo B; Togashi, Noriko N; Miyamoto, Masaya M; Kiga, Masaki M; Iwasaki, Shiho S; Kamai, Yasuki Y; Tominaga, Yuichi Y; Takeda, Yasuyuki Y; Kagoshima, Yoshiko Y; Shimizu, Yuki Y; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Nakao, Naoki N; Hanzawa, Hiroyuki H; Watanabe, Kengo K; Yoda, Satoshi S; Yanagitani, Noriko N; Hata, Aaron N AN; Shaw, Alice T AT; Nishio, Makoto M; Fujita, Naoya N; Isoyama, Takeshi T

Publication Date: 2019-08-09

Variant appearance in text: CFTR: 1666A>G; Ile556Val; rs75789129

PubMed Link: 31399568

Variant Present in the following documents:

• 41467_2019_11496_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CFTR: I556V

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 55

View BVdb publication page

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The CFTR gene variants in Japanese children with idiopathic pancreatitis.

Human Genome Variation

Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T

Publication Date: 2019

Variant appearance in text: CFTR: 1666A>G; I556V; rs75789129

PubMed Link: 30992994

Variant Present in the following documents:

• Main text
• 41439_2019_Article_49.pdf

View BVdb publication page

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Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics

Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H

Publication Date: 2019

Variant appearance in text: CFTR: 1666A>G; Ile556Val

PubMed Link: 30842938

Variant Present in the following documents:

• Main text
• fped-07-00036.pdf

View BVdb publication page

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Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Orphanet Journal Of Rare Diseases

Guo, Xiaobei X; Liu, Keqiang K; Liu, Yaping Y; Situ, Yusen Y; Tian, Xinlun X; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2018-12-17

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 30558651

Variant Present in the following documents:

• Main text
• 13023_2018_Article_968.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CFTR: 1666A>G; Ile556Val; rs75789129

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis.

Frontiers In Neuroscience

Lu, Yan Y; Da, Yu-Wei YW; Zhang, Yong-Biao YB; Li, Xin-Gang XG; Wang, Min M; Di, Li L; Pang, Mi M; Lei, Lin L

Publication Date: 2018

Variant appearance in text: CFTR: 1666A>G

PubMed Link: 30174583

Variant Present in the following documents:

• fnins-12-00570.pdf

View BVdb publication page

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Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Journal Of Thoracic Disease

Guan, Wei-Jie WJ; Li, Jia-Cheng JC; Liu, Fang F; Zhou, Jian J; Liu, Ya-Ping YP; Ling, Chao C; Gao, Yong-Hua YH; Li, Hui-Min HM; Yuan, Jing-Jing JJ; Huang, Yan Y; Chen, Chun-Lan CL; Chen, Rong-Chang RC; Zhang, Xue X; Zhong, Nan-Shan NS

Publication Date: 2018-05

Variant appearance in text: CFTR: 1666A>G; I556V; rs75789129

PubMed Link: 29997923

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR is required for the migration of primordial germ cells during zebrafish early embryogenesis.

Reproduction (Cambridge, England)

Liao, Huijuan H; Chen, Yan Y; Li, Yulong Y; Xue, Shaolong S; Liu, Mingfeng M; Lin, Ziyuan Z; Liu, Yanyan Y; Chan, Hsiao Chang HC; Zhang, Xiaohu X; Sun, Huaqin H

Publication Date: 2018-09

Variant appearance in text: CFTR: I556V

PubMed Link: 29930176

Variant Present in the following documents:

• Main text
• rep-156-261.pdf

View BVdb publication page

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Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis.

Frontiers In Neuroscience

Lu, Yan Y; Da, Yu-Wei YW; Zhang, Yong-Biao YB; Li, Xin-Gang XG; Wang, Min M; Di, Li L; Pang, Mi M; Lei, Lin L

Publication Date: 2018

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 29872374

Variant Present in the following documents:

• Main text
• fnins-12-00329.pdf

View BVdb publication page

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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Scientific Reports

Liu, Ruihong R; Chen, Chuming C; Xia, Xuefeng X; Liao, Qijun Q; Wang, Qiong Q; Newcombe, Paul J PJ; Xu, Shuhua S; Chen, Minghui M; Ding, Yue Y; Li, Xiaoying X; Liao, Zhihong Z; Li, Fucheng F; Du, Minlian M; Huang, Huaiqiu H; Dong, Ruimin R; Deng, Weiping W; Wang, Ye Y; Zeng, Binghui B; Pan, Qihao Q; Jiang, Danhua D; Zeng, Hao H; Sham, Pak P; Cao, Yingnan Y; Maxwell, Patrick H PH; Gao, Zhi-Liang ZL; Peng, Liang L; Wang, Yiming Y

Publication Date: 2017-08-23

Variant appearance in text: rs75789129

PubMed Link: 28835676

Variant Present in the following documents:

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1666A>G; Ile556Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Bmc Medical Genomics

Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ

Publication Date: 2017-02-23

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 28228131

Variant Present in the following documents:

• 12920_2017_246_MOESM2_ESM.pdf

View BVdb publication page

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Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Pediatric Pulmonology

Zheng, Baoying B; Cao, Ling L

Publication Date: 2017-03

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 27717243

Variant Present in the following documents:

• Main text
• PPUL-52-E11.pdf

View BVdb publication page

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Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

Plos One

Salinas, Danieli B DB; Sosnay, Patrick R PR; Azen, Colleen C; Young, Suzanne S; Raraigh, Karen S KS; Keens, Thomas G TG; Kharrazi, Martin M

Publication Date: 2016

Variant appearance in text: CFTR: I556V

PubMed Link: 27214204

Variant Present in the following documents:

• Main text

View BVdb publication page

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p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Human Genome Variation

Tian, Xinlun X; Liu, Yaping Y; Yang, Jun J; Wang, Han H; Liu, Tao T; Xu, Wenbing W; Li, Xue X; Zhu, Yuanjue Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2016

Variant appearance in text: CFTR: I556V

PubMed Link: 27081564

Variant Present in the following documents:

• Main text
• hgv201563.pdf

View BVdb publication page

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Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Kondo, Shiho S; Fujiki, Kotoyo K; Ko, Shigeru B H SB; Yamamoto, Akiko A; Nakakuki, Miyuki M; Ito, Yasutomo Y; Shcheynikov, Nikolay N; Kitagawa, Motoji M; Naruse, Satoru S; Ishiguro, Hiroshi H

Publication Date: 2015-08-15

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 26089335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

The Journal Of Molecular Diagnostics : Jmd

Prach, Lisa L; Koepke, Ruth R; Kharrazi, Martin M; Keiles, Steven S; Salinas, Danieli B DB; Reyes, Maria Carmen MC; Pian, Mark M; Opsimos, Harry H; Otsuka, Kimberly N KN; Hardy, Karen Ann KA; Milla, Carlos E CE; Zirbes, Jacquelyn M JM; Chipps, Bradley B; O'Bra, Susan S; Saeed, Muhammad M MM; Sudhakar, Reddivalam R; Lehto, Susan S; Nielson, Dennis D; Shay, Gregory F GF; Seastrand, Mary M; Jhawar, Sanjay S; Nickerson, Bruce B; Landon, Christopher C; Thompson, Ann A; Nussbaum, Eliezer E; Chin, Terry T; Wojtczak, Henry H; ,

Publication Date: 2013-09

Variant appearance in text: CFTR: I556V

PubMed Link: 23810505

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: I556V

PubMed Link: 22664493

Variant Present in the following documents:

• Main text

View BVdb publication page

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Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Journal Of Korean Medical Science

Koh, Won-Jung WJ; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Jeong-Ho JH; Lim, Seong Yong SY

Publication Date: 2006-06

Variant appearance in text: CFTR: 1666A>G; I556V

PubMed Link: 16778407

Variant Present in the following documents:

• jkms-21-563.pdf

View BVdb publication page

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