Publications:

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Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Iranian Biomedical Journal

Hosseini Nami, Amin A; Kabiri, Mahboubeh M; Zeinali, Sirous S

Publication Date: 2022-11-01

Variant appearance in text: CFTR: M1028I

PubMed Link: 35468710

Variant Present in the following documents:

• ibj-26-398.pdf

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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: M1028I

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.pdf

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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: rs200553511

PubMed Link: 34541464

Variant Present in the following documents:

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

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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: M1028I

PubMed Link: 32026723

Variant Present in the following documents:

• 0256-4947.2020.15.pdf

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CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Journal Of Reproduction & Infertility

Karimi, Nasibeh N; Alibakhshi, Reza R; Almasi, Shekoufeh S

Publication Date: 2018

Variant appearance in text: CFTR: M1028I

PubMed Link: 29850441

Variant Present in the following documents:

• JRI-19-3.pdf

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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: M1028I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

Disease Markers

Essawi, O O; Farraj, M M; De Leeneer, K K; Steyaert, W W; De Pauw, K K; De Paepe, A A; Claes, K K; Essawi, T T; Coucke, P J PJ

Publication Date: 2015

Variant appearance in text: CFTR: M1028I

PubMed Link: 25688174

Variant Present in the following documents:

• DM2015-458653.pdf

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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: M1028I

PubMed Link: 24106596

Variant Present in the following documents:

• ijbms-16-917.pdf

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Reconstructing large regions of an ancestral mammalian genome in silico.

Genome Research

Blanchette, Mathieu M; Green, Eric D ED; Miller, Webb W; Haussler, David D

Publication Date: 2004-12

Variant appearance in text: CFTR: M1028I

PubMed Link: 15574820

Variant Present in the following documents:

• Main text

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