Publications:

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Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient.

Frontiers In Molecular Biosciences

Allan, Katelin M KM; Astore, Miro A MA; Kardia, Egi E; Wong, Sharon L SL; Fawcett, Laura K LK; Bell, Jessica L JL; Visser, Simone S; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Sivam, Sheila S; Vittorio, Orazio O; Kuyucak, Serdar S; Waters, Shafagh A SA

Publication Date: 2023

Variant appearance in text: CFTR: L467F

PubMed Link: 37325471

Variant Present in the following documents:

• Main text
• fmolb-10-1148501.pdf

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Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.

International Journal Of Molecular Sciences

Terlizzi, Vito V; Pesce, Emanuela E; Capurro, Valeria V; Tomati, Valeria V; Lena, Mariateresa M; Pastorino, Cristina C; Bocciardi, Renata R; Zara, Federico F; Centrone, Claudia C; Taccetti, Giovanni G; Castellani, Carlo C; Pedemonte, Nicoletta N

Publication Date: 2023-03-31

Variant appearance in text: CFTR: L467F

PubMed Link: 37047546

Variant Present in the following documents:

• ijms-24-06576.pdf

View BVdb publication page

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Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology

Tümmler, Burkhard B

Publication Date: 2023

Variant appearance in text: CFTR: Leu467Phe

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.pdf

View BVdb publication page

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CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.

International Journal Of Molecular Sciences

Kleinfelder, Karina K; Somenza, Elena E; Farinazzo, Alessia A; Conti, Jessica J; Lotti, Virginia V; Latorre, Roberta Valeria RV; Rodella, Luca L; Massella, Arianna A; Tomba, Francesco F; Bertini, Marina M; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2023-03-08

Variant appearance in text: CFTR: L467F

PubMed Link: 36982273

Variant Present in the following documents:

• ijms-24-05199.pdf

View BVdb publication page

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Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.

Pharmaceutics

Ritivoiu, Mirela-Elena ME; Drăgoi, Cristina Manuela CM; Matei, Dumitru D; Stan, Iustina Violeta IV; Nicolae, Alina Crenguţa AC; Craiu, Mihai M; Dumitrescu, Ion-Bogdan IB; Ciolpan, Alina Angelica AA

Publication Date: 2023-01-03

Variant appearance in text: CFTR: L467F

PubMed Link: 36678791

Variant Present in the following documents:

• pharmaceutics-15-00162.pdf

View BVdb publication page

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Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology

Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S

Publication Date: 2022-10-21

Variant appearance in text: CFTR: L467F

PubMed Link: 36286063

Variant Present in the following documents:

• Main text
• cimb-44-00349.pdf

View BVdb publication page

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Modulator Therapy in Cystic Fibrosis Patients with cis Variants in F508del Complex Allele: A Short-Term Observational Case Series.

Journal Of Personalized Medicine

Terlizzi, Vito V; Centrone, Claudia C; Ferrari, Beatrice B; Castellani, Chiara C; Gunawardena, Tarini N A TNA; Taccetti, Giovanni G; Laselva, Onofrio O

Publication Date: 2022-08-31

Variant appearance in text: CFTR: L467F

PubMed Link: 36143206

Variant Present in the following documents:

• Main text
• jpm-12-01421.pdf

View BVdb publication page

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An Update on CFTR Drug Discovery: Opportunities and Challenges.

Biomolecules

D'Ursi, Pasqualina P; Fossa, Paola P

Publication Date: 2022-06-06

Variant appearance in text: CFTR: L467F

PubMed Link: 35740917

Variant Present in the following documents:

• biomolecules-12-00792.pdf

View BVdb publication page

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Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances

Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE

Publication Date: 2022-07-14

Variant appearance in text: CFTR: L467F

PubMed Link: 35647563

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.

International Journal Of Molecular Sciences

Sondo, Elvira E; Cresta, Federico F; Pastorino, Cristina C; Tomati, Valeria V; Capurro, Valeria V; Pesce, Emanuela E; Lena, Mariateresa M; Iacomino, Michele M; Baffico, Ave Maria AM; Coviello, Domenico D; Bandiera, Tiziano T; Zara, Federico F; Galietta, Luis J V LJV; Bocciardi, Renata R; Castellani, Carlo C; Pedemonte, Nicoletta N

Publication Date: 2022-03-15

Variant appearance in text: CFTR: 1399C>T; Leu467Phe; rs1800089

PubMed Link: 35328596

Variant Present in the following documents:

• Main text
• ijms-23-03175.pdf

View BVdb publication page

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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: 1399C>T; rs1800089

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.pdf

View BVdb publication page

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Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

International Journal Of Neonatal Screening

Sicko, Robert J RJ; Stevens, Colleen F CF; Hughes, Erin E EE; Leisner, Melissa M; Ling, Helen H; Saavedra-Matiz, Carlos A CA; Caggana, Michele M; Kay, Denise M DM

Publication Date: 2021-11-02

Variant appearance in text: CFTR: 1399C>T; L467F

PubMed Link: 34842611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblastic leukemia.

Central-European Journal Of Immunology

Gowin, Ewelina E; Bąbol-Pokora, Katarzyna K; Januszkiewicz-Lewandowska, Danuta D

Publication Date: 2021

Variant appearance in text: CFTR: L467F

PubMed Link: 34764798

Variant Present in the following documents:

• Main text
• CEJI-46-44428.pdf

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: rs1800089

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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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: rs1800089

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: L467F

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg

Publication Date: 2020-12

Variant appearance in text: CFTR: 1399C>T; Leu467Phe

PubMed Link: 33262486

Variant Present in the following documents:

• Main text
• 41431_2020_Article_741.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: L467F

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The prevalence of viral infections in children with cystic fibrosis in a tertiary care center in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Chaballout, Mohammad M; Karkour, Kawthar K; Al-Ghamdi, Hadeel H; Al-Mogarri, Ibrahim I; Al-Haider, Sami S; Nizami, Imran I; Raja, Rawia R; AlNakhli, Ali A

Publication Date: 2020-06

Variant appearance in text: CFTR: L467F

PubMed Link: 32292813

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine

Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N

Publication Date: 2020

Variant appearance in text: CFTR: 1399C>T; Leu467Phe; rs1800089

PubMed Link: 32026723

Variant Present in the following documents:

• Main text
• 0256-4947.2020.15.pdf

View BVdb publication page

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Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.

Drug Discovery Today

Chen, Kevin G KG; Zhong, Pingyu P; Zheng, Wei W; Beekman, Jeffrey M JM

Publication Date: 2019-11

Variant appearance in text: CFTR: L467F

PubMed Link: 31173911

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1399C>T; Leu467Phe

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016

Balkan Medical Journal

Hangül, Melih M; Pekcan, Sevgi S; Köse, Mehmet M; Acıcan, Deniz D; Şahlar, Tuba Esra TE; Erdoğan, Murat M; Kendirci, Mustafa M; Güney, Deniz D; Öznavruz, Hasan H; Demir, Osman O; Ercan, Ömür Ö; Göçlü, Fatma F

Publication Date: 2019-05-10

Variant appearance in text: CFTR: L467F

PubMed Link: 30592194

Variant Present in the following documents:

• BMJ-36-179.pdf

View BVdb publication page

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Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics

Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K

Publication Date: 2018-02-13

Variant appearance in text: CFTR: 1399C>T; Leu467Phe

PubMed Link: 29504914

Variant Present in the following documents:

• Main text
• 12920_2018_Article_328.pdf

View BVdb publication page

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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: rs1800089

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

Human Genome Variation

Vecchio-Pagán, Briana B; Blackman, Scott M SM; Lee, Melissa M; Atalar, Melis M; Pellicore, Matthew J MJ; Pace, Rhonda G RG; Franca, Arianna L AL; Raraigh, Karen S KS; Sharma, Neeraj N; Knowles, Michael R MR; Cutting, Garry R GR

Publication Date: 2016

Variant appearance in text: CFTR: L467F; rs1800089

PubMed Link: 27917292

Variant Present in the following documents:

• Main text
• hgv201638.pdf

View BVdb publication page

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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: rs1800089

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A

Publication Date: 2015-09

Variant appearance in text: CFTR: 1399C>T; L467F; rs1800089

PubMed Link: 26436105

Variant Present in the following documents:

• Main text
• mgg30003-0396.pdf

View BVdb publication page

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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: L467F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: rs1800089

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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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: rs1800089

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran.

Iranian Journal Of Basic Medical Sciences

Mehdizadeh Hakkak, Atieh A; Keramatipour, Mohammad M; Talebi, Saeid S; Brook, Azam A; Tavakol Afshari, Jalil J; Raazi, Amin A; Kianifar, Hamid Reza HR

Publication Date: 2013-08

Variant appearance in text: CFTR: 1399C>T; Leu467Phe

PubMed Link: 24106596

Variant Present in the following documents:

• Main text
• ijbms-16-917.pdf

View BVdb publication page

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Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

European Journal Of Human Genetics : Ejhg

Sobczyńska-Tomaszewska, Agnieszka A; Ołtarzewski, Mariusz M; Czerska, Kamila K; Wertheim-Tysarowska, Katarzyna K; Sands, Dorota D; Walkowiak, Jarosław J; Bal, Jerzy J; Mazurczak, Tadeusz T; ,

Publication Date: 2013-04

Variant appearance in text: CFTR: L467F

PubMed Link: 22892530

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk.

Lung Cancer (Amsterdam, Netherlands)

Li, Yafei Y; Sun, Zhifu Z; Wu, Yanhong Y; Babovic-Vuksanovic, Dusica D; Li, Yan Y; Cunningham, Julie M JM; Pankratz, Vernon S VS; Yang, Ping P

Publication Date: 2010-10

Variant appearance in text: rs1800089

PubMed Link: 20116881

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CFTR: L467F; rs1800089

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

View BVdb publication page

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A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd

Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR

Publication Date: 2006-02

Variant appearance in text: CFTR: L467F

PubMed Link: 16436643

Variant Present in the following documents:

• Main text

View BVdb publication page

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