Publications:

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A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

Jhep Reports : Innovation In Hepatology

Biyoukar, Moustafa M; Corpechot, Christophe C; El Mouhadi, Sanaâ S; Chambenois, Edouard E; Vanderbecq, Quentin Q; Barbu, Véronique V; Dong, Catherine C; Lemoinne, Sara S; Tordjman, Mickael M; Jomaah, Raphel R; Chazouilleres, Olivier O; Arrivé, Lionel L

Publication Date: 2022-11

Variant appearance in text: ABCB4: 217C>G; Leu73Val

PubMed Link: 36277956

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes

Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ

Publication Date: 2022-06-11

Variant appearance in text: ABCB4: 217C>G

PubMed Link: 35741809

Variant Present in the following documents:

• Main text
• genes-13-01047.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: ABCB4: 217C>G; L73V; rs8187788

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Jhep Reports : Innovation In Hepatology

Dong, Catherine C; Condat, Bertrand B; Picon-Coste, Magalie M; Chrétien, Yves Y; Potier, Pascal P; Noblinski, Béatrice B; Arrivé, Lionel L; Hauuy, Marie-Pierre MP; Barbu, Véronique V; Maftouh, Anware A; Gaouar, Farid F; Ben Belkacem, Karima K; Housset, Chantal C; Poupon, Raoul R; Zanditenas, David D; Chazouillères, Olivier O; Corpechot, Christophe C

Publication Date: 2021-04

Variant appearance in text: ABCB4: Leu73Val

PubMed Link: 33554096

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: ABCB4: 217C>G; L73V; rs8187788

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs8187788

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs8187788

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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