Publications:

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: rs397508792

PubMed Link: 34541464

Variant Present in the following documents:

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

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The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Moghrabi, Nabil N; Alotaibi, Tariq T; Alotaibi, Sami S; Gamalmaz, Hisham H

Publication Date: 2017-03

Variant appearance in text: CFTR: R248T

PubMed Link: 30805499

Variant Present in the following documents:

• Main text
• main.pdf

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R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.

Journal Of Medical Case Reports

Villalona, Seiichi S; Glover-López, Guillermo G; Ortega-García, Juan Antonio JA; Moya-Quiles, Rosa R; Mondejar-López, Pedro P; Martínez-Romero, Maria C MC; Rigabert-Montiel, Mariano M; Pastor-Vivero, María D MD; Sánchez-Solís, Manuel M

Publication Date: 2017-02-15

Variant appearance in text: CFTR: R248T

PubMed Link: 28196530

Variant Present in the following documents:

• Main text
• 13256_2016_Article_1181.pdf

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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.

Genetics And Molecular Biology

Polizzi, Angela A; Tesse, Riccardina R; Santostasi, Teresa T; Diana, Anna A; Manca, Antonio A; Logrillo, Vito Paolo VP; Cazzato, Maria Domenica MD; Pantaleo, Maria Giuseppa MG; Armenio, Lucio L

Publication Date: 2011-07

Variant appearance in text: CFTR: R248T

PubMed Link: 21931512

Variant Present in the following documents:

• Main text
• gmb-34-3-416.pdf

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