CFTR c.509G>A ;(p.R170H)

Variant ID: 7-117174349-G-A

NM_000492.3(CFTR):c.509G>A;(p.R170H)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in the Cystic Fibrosis Registry.

Annals Of The American Thoracic Society
Thompson, Cassandra C; Middleton, Peter G PG
Publication Date: 2023-04

Variant appearance in text: CFTR: R170H
PubMed Link: 37000148
Variant Present in the following documents:
  • Main text
  • AnnalsATS.202212-1051ED.pdf
View BVdb publication page



Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)
Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P
Publication Date: 2022-12-20

Variant appearance in text: CFTR: R170H
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.

Plos One
Berke, Gergő G; Gede, Noémi N; Szadai, Letícia L; Ocskay, Klementina K; Hegyi, Péter P; Sahin-Tóth, Miklós M; Hegyi, Eszter E
Publication Date: 2022

Variant appearance in text: CFTR: R170H
PubMed Link: 36264955
Variant Present in the following documents:
  • Main text
  • pone.0276397.pdf
View BVdb publication page



Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Respiratory Medicine Case Reports
Tkemaladze, Tinatin T; Kvaratskhelia, Eka E; Ghughunishvili, Mariam M; Lentze, Michael J MJ; Abzianidze, Elene E; Skrahina, Volha V; Rolfs, Arndt A
Publication Date: 2022

Variant appearance in text: CFTR: R170H
PubMed Link: 36238659
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: CFTR: 509G>A; R170H; rs1800079
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: R170H
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



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: 509G>A; Arg170His; rs1800079
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells
Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR
Publication Date: 2021-12-24

Variant appearance in text: CFTR: R170H
PubMed Link: 35011616
Variant Present in the following documents:
  • Main text
  • cells-11-00054.pdf
View BVdb publication page



Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells
Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR
Publication Date: 2021-12-24

Variant appearance in text: CFTR: R170H
PubMed Link: 35011616
Variant Present in the following documents:
  • Main text
  • cells-11-00054.pdf
View BVdb publication page



The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal
Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A
Publication Date: 2021-11

Variant appearance in text: CFTR: 509G>A; rs1800079
PubMed Link: 34860163
Variant Present in the following documents:
  • bmj-38-6-357.pdf
View BVdb publication page



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: rs1800079
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1800079
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



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: 509G>A; Arg170His; rs1800079
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

Bmc Pediatrics
Lascano-Vaca, Yazmina Y; Ortiz-Prado, Esteban E; Gomez-Barreno, Lenin L; Simbaña-Rivera, Katherine K; Vasconez, Eduardo E; Lister, Alexander A; Arteaga-Espinosa, María Emilia ME; Perez, Geovanny F GF
Publication Date: 2020-03-06

Variant appearance in text: CFTR: R170H; rs1800079
PubMed Link: 32143663
Variant Present in the following documents:
  • Main text
  • 12887_2020_Article_2013.pdf
View BVdb publication page



Patient-derived pancreas-on-a-chip to model cystic fibrosis-related disorders.

Nature Communications
Shik Mun, Kyu K; Arora, Kavisha K; Huang, Yunjie Y; Yang, Fanmuyi F; Yarlagadda, Sunitha S; Ramananda, Yashaswini Y; Abu-El-Haija, Maisam M; Palermo, Joseph J JJ; Appakalai, Balamurugan N BN; Nathan, Jaimie D JD; Naren, Anjaparavanda P AP
Publication Date: 2019-07-16

Variant appearance in text: CFTR: R170H
PubMed Link: 31311920
Variant Present in the following documents:
  • 41467_2019_11178_MOESM1_ESM.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: CFTR: 509G>A; Arg170His
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
Publication Date: 2018-06-07

Variant appearance in text: CFTR: 509G>A; R170H
PubMed Link: 29805046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs1800079
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: 509G>A; Arg170His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Low Beta-Adrenergic Sweat Responses in Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome Children.

Pediatric Allergy, Immunology, And Pulmonology
Salinas, Danieli Barino DB; Kang, Lucia L; Azen, Colleen C; Quinton, Paul P
Publication Date: 2017-03-01

Variant appearance in text: CFTR: R170H
PubMed Link: 28465863
Variant Present in the following documents:
  • Main text
  • ped.2016.0662.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: CFTR: R170H
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



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: R170H
PubMed Link: 27214204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Pancreas
Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M
Publication Date: 2016-10

Variant appearance in text: CFTR: R170H
PubMed Link: 27171515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Genetic Testing And Molecular Biomarkers
Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM
Publication Date: 2016-06

Variant appearance in text: CFTR: R170H
PubMed Link: 27104957
Variant Present in the following documents:
  • Main text
  • gtmb.2016.0014.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1800079
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CFTR: R170H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

Human Molecular Genetics
Ni, Bixian B; Lin, Yuan Y; Sun, Liangdan L; Zhu, Meng M; Li, Zheng Z; Wang, Hui H; Yu, Jun J; Guo, Xuejiang X; Zuo, Xianbo X; Dong, Jing J; Xia, Yankai Y; Wen, Yang Y; Wu, Hao H; Li, Honggang H; Zhu, Yong Y; Ping, Ping P; Chen, Xiangfeng X; Dai, Juncheng J; Jiang, Yue Y; Xu, Peng P; Du, Qiang Q; Yao, Bing B; Weng, Ning N; Lu, Hui H; Wang, Zhuqing Z; Zhu, Xiaobin X; Yang, Xiaoyu X; Xiong, Chenliang C; Ma, Hongxia H; Jin, Guangfu G; Xu, Jianfeng J; Wang, Xinru X; Zhou, Zuomin Z; Liu, Jiayin J; Zhang, Xuejun X; Conrad, Donald F DF; Hu, Zhibin Z; Sha, Jiahao J
Publication Date: 2015-10-01

Variant appearance in text: rs1800079
PubMed Link: 26199320
Variant Present in the following documents:
  • Main text
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: R170H
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs1800079
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Plos Genetics
LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,
Publication Date: 2014-07

Variant appearance in text: CFTR: R170H
PubMed Link: 25033378
Variant Present in the following documents:
  • Main text
  • pgen.1004376.pdf
View BVdb publication page



Genetics and treatment options for recurrent acute and chronic pancreatitis.

Current Treatment Options In Gastroenterology
Shelton, Celeste A CA; Whitcomb, David C DC
Publication Date: 2014-09

Variant appearance in text: CFTR: R170H
PubMed Link: 24954874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: CFTR: R170H
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Baker, Mei W MW; Groose, Molly M; Hoffman, Gary G; Rock, Michael M; Levy, Hara H; Farrell, Philip M PM
Publication Date: 2011-07

Variant appearance in text: CFTR: R170H
PubMed Link: 21388895
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: CFTR: R170H; rs1800079
PubMed Link: 18716917
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome.

American Journal Of Respiratory And Critical Care Medicine
Kim, Richard D RD; Greenberg, David E DE; Ehrmantraut, Mary E ME; Guide, Shireen V SV; Ding, Li L; Shea, Yvonne Y; Brown, Margaret R MR; Chernick, Milica M; Steagall, Wendy K WK; Glasgow, Connie G CG; Lin, JingPing J; Jolley, Clara C; Sorbara, Lynn L; Raffeld, Mark M; Hill, Suvimol S; Avila, Nilo N; Sachdev, Vandana V; Barnhart, Lisa A LA; Anderson, Victoria L VL; Claypool, Reginald R; Hilligoss, Dianne M DM; Garofalo, Mary M; Fitzgerald, Alan A; Anaya-O'Brien, Sandra S; Darnell, Dirk D; DeCastro, Rosamma R; Menning, Heather M HM; Ricklefs, Stacy M SM; Porcella, Stephen F SF; Olivier, Kenneth N KN; Moss, Joel J; Holland, Steven M SM
Publication Date: 2008-11-15

Variant appearance in text: CFTR: R170H
PubMed Link: 18703788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

European Journal Of Human Genetics : Ejhg
Dequeker, Els E; Stuhrmann, Manfred M; Morris, Michael A MA; Casals, Teresa T; Castellani, Carlo C; Claustres, Mireille M; Cuppens, Harry H; des Georges, Marie M; Ferec, Claude C; Macek, Milan M; Pignatti, Pier-Franco PF; Scheffer, Hans H; Schwartz, Marianne M; Witt, Michal M; Schwarz, Martin M; Girodon, Emmanuelle E
Publication Date: 2009-01

Variant appearance in text: CFTR: R170H
PubMed Link: 18685558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

The Journal Of Molecular Diagnostics : Jmd
Bareil, Corinne C; Guittard, Caroline C; Altieri, Jean-Pierre JP; Templin, Carine C; Claustres, Mireille M; des Georges, Marie M
Publication Date: 2007-11

Variant appearance in text: CFTR: R170H
PubMed Link: 17975025
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Bmc Medical Genetics
Taulan, Magali M; Girardet, Anne A; Guittard, Caroline C; Altieri, Jean-Pierre JP; Templin, Carine C; Beroud, Christophe C; des Georges, Marie M; Claustres, Mireille M
Publication Date: 2007-04-20

Variant appearance in text: CFTR: Arg170His
PubMed Link: 17448246
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-22.pdf
View BVdb publication page