Publications:

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Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and Transient Neonatal Cholestasis in an Infant.

Jpgn Reports

Lourembam, Radhapyari R; Malik, Rohan R; Bolia, Rishi R

Publication Date: 2021-05

Variant appearance in text: ABCB4: 1769G>A

PubMed Link: 37207060

Variant Present in the following documents:

• Main text
• pg9-2-e080.pdf

View BVdb publication page

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Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.

International Journal Of Molecular Sciences

Vitale, Giovanni G; Mattiaccio, Alessandro A; Conti, Amalia A; Berardi, Sonia S; Vero, Vittoria V; Turco, Laura L; Seri, Marco M; Morelli, Maria Cristina MC

Publication Date: 2023-03-18

Variant appearance in text: ABCB4: 1769G>A

PubMed Link: 36982896

Variant Present in the following documents:

• Main text
• ijms-24-05823.pdf

View BVdb publication page

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Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits.

Psychiatric Genetics

Castellini, Giovanni G; Merola, Giuseppe Pierpaolo GP; Baccaredda, Ottone Boy OB; Pecoraro, Vincenzo V; Bozza, Bernardo B; Cassioli, Emanuele E; Rossi, Eleonora E; Bessi, Valentina V; Sorbi, Sandro S; Nacmias, Benedetta B; Ricca, Valdo V

Publication Date: 2022-12-20

Variant appearance in text: rs45575636

PubMed Link: 36729042

Variant Present in the following documents:

• Main text
• pg-33-79.pdf

View BVdb publication page

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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: 1769G>A; Arg590Gln

PubMed Link: 36277956

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.

Hepatology Communications

Nayagam, Jeremy S JS; Foskett, Pierre P; Strautnieks, Sandra S; Agarwal, Kosh K; Miquel, Rosa R; Joshi, Deepak D; Thompson, Richard J RJ

Publication Date: 2022-10

Variant appearance in text: ABCB4: 1769G>A

PubMed Link: 35894240

Variant Present in the following documents:

• Main text
• HEP4-6-2654.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: 1769G>A

PubMed Link: 35741809

Variant Present in the following documents:

• Main text
• genes-13-01047.pdf

View BVdb publication page

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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Diagnostics (Basel, Switzerland)

Almes, Marion M; Spraul, Anne A; Ruiz, Mathias M; Girard, Muriel M; Roquelaure, Bertrand B; Laborde, Nolwenn N; Gottrand, Fréderic F; Turquet, Anne A; Lamireau, Thierry T; Dabadie, Alain A; Bonneton, Marjorie M; Thebaut, Alice A; Rohmer, Babara B; Lacaille, Florence F; Broué, Pierre P; Fabre, Alexandre A; Mention-Mulliez, Karine K; Bouligand, Jérôme J; Jacquemin, Emmanuel E; Gonzales, Emmanuel E

Publication Date: 2022-05-07

Variant appearance in text: ABCB4: 1769G>A

PubMed Link: 35626323

Variant Present in the following documents:

• Main text
• diagnostics-12-01169.pdf

View BVdb publication page

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: ABCB4: Arg590Gln; rs45575636

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Oncogene

Mota, Alba A; Oltra, Sara S SS; Selenica, Pier P; Moiola, Cristian P CP; Casas-Arozamena, Carlos C; López-Gil, Carlos C; Diaz, Eva E; Gatius, Sonia S; Ruiz-Miro, María M; Calvo, Ana A; Rojo-Sebastián, Alejandro A; Hurtado, Pablo P; Piñeiro, Roberto R; Colas, Eva E; Gil-Moreno, Antonio A; Reis-Filho, Jorge S JS; Muinelo-Romay, Laura L; Abal, Miguel M; Matias-Guiu, Xavier X; Weigelt, Britta B; Moreno-Bueno, Gema G

Publication Date: 2022-03

Variant appearance in text: ABCB4: R590Q

PubMed Link: 35145232

Variant Present in the following documents:

• 41388_2022_2221_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs45575636

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

View BVdb publication page

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Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine

Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C

Publication Date: 2021-10-30

Variant appearance in text: ABCB4: 1769G>A; Arg590Gln

PubMed Link: 34716697

Variant Present in the following documents:

• MGG3-9-e1836-s001.xlsx, sheet 1

View BVdb publication page

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Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine

Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C

Publication Date: 2021-12

Variant appearance in text: ABCB4: 1769G>A; Arg590Gln

PubMed Link: 34716697

Variant Present in the following documents:

• MGG3-9-e1836-s001.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ABCB4: 1769G>A; R590Q; rs45575636

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 2

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: Arg590Gln

PubMed Link: 33554096

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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The Role of Gallstones in Gallbladder Cancer in India: A Mendelian Randomization Study.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Mhatre, Sharayu S; Richmond, Rebecca C RC; Chatterjee, Nilanjan N; Rajaraman, Preetha P; Wang, Zhaoming Z; Zhang, Haoyu H; Badwe, Rajendra R; Goel, Mahesh M; Patkar, Shraddha S; Shrikhande, Shailesh V SV; Patil, Prachi S PS; Davey Smith, George G; Relton, Caroline L CL; Dikshit, Rajesh P RP

Publication Date: 2021-02

Variant appearance in text: rs45575636

PubMed Link: 33187967

Variant Present in the following documents:

• Main text

View BVdb publication page

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Severe and protracted cholestasis in 44 young men taking bodybuilding supplements: assessment of genetic, clinical and chemical risk factors.

Alimentary Pharmacology & Therapeutics

Stolz, Andrew A; Navarro, Victor V; Hayashi, Paul H PH; Fontana, Robert J RJ; Barnhart, Huiman X HX; Gu, Jiezhun J; Chalasani, Naga P NP; Vega, Maricruz M MM; Bonkovsky, Herbert L HL; Seeff, Leonard B LB; Serrano, Jose J; Avula, Bharathi B; Khan, Ikhlas A IA; Cirulli, Elizabeth T ET; Kleiner, David E DE; Hoofnagle, Jay H JH; ,

Publication Date: 2019-05

Variant appearance in text: ABCB4: R590Q

PubMed Link: 30934130

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications

Ferkingstad, Egil E; Oddsson, Asmundur A; Gretarsdottir, Solveig S; Benonisdottir, Stefania S; Thorleifsson, Gudmar G; Deaton, Aimee M AM; Jonsson, Stefan S; Stefansson, Olafur A OA; Norddahl, Gudmundur L GL; Zink, Florian F; Arnadottir, Gudny A GA; Gunnarsson, Bjarni B; Halldorsson, Gisli H GH; Helgadottir, Anna A; Jensson, Brynjar O BO; Kristjansson, Ragnar P RP; Sveinbjornsson, Gardar G; Sverrisson, David A DA; Masson, Gisli G; Olafsson, Isleifur I; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Holm, Hilma H; Jonsdottir, Ingileif I; Olafsson, Sigurdur S; Steingrimsdottir, Thora T; Rafnar, Thorunn T; Bjornsson, Einar S ES; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2018-11-30

Variant appearance in text: ABCB4: Arg590Gln; rs45575636

PubMed Link: 30504769

Variant Present in the following documents:

• 41467_2018_7460_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_7460_MOESM8_ESM.xlsx, sheet 1
• 41467_2018_7460_MOESM1_ESM.pdf
• 41467_2018_7460_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Hepatology Communications

Schatz, Stephanie Barbara SB; Jüngst, Christoph C; Keitel-Anselmo, Verena V; Kubitz, Ralf R; Becker, Christina C; Gerner, Patrick P; Pfister, Eva-Doreen ED; Goldschmidt, Imeke I; Junge, Norman N; Wenning, Daniel D; Gehring, Stephan S; Arens, Stefan S; Bretschneider, Dirk D; Grothues, Dirk D; Engelmann, Guido G; Lammert, Frank F; Baumann, Ulrich U

Publication Date: 2018-05

Variant appearance in text: ABCB4: 1769G>A

PubMed Link: 29761167

Variant Present in the following documents:

• Main text
• HEP4-2-504.pdf

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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: rs45575636

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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An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Scientific Reports

Dixon, Peter H PH; Sambrotta, Melissa M; Chambers, Jennifer J; Taylor-Harris, Pamela P; Syngelaki, Argyro A; Nicolaides, Kypros K; Knisely, A S AS; Thompson, Richard J RJ; Williamson, Catherine C

Publication Date: 2017-09-18

Variant appearance in text: ABCB4: Arg590Gln; rs45575636

PubMed Link: 28924228

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11626.pdf

View BVdb publication page

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NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.

Scientific Reports

Jüngst, Christoph C; Stadlbauer, Vanessa V; Reichert, Matthias C MC; Zimmer, Vincent V; Weber, Susanne N SN; Ofner-Ziegenfuß, Lisa L; Voigtländer, Torsten T; Spindelböck, Walter W; Fickert, Peter P; Kirchner, Gabriele I GI; Lammert, Frank F; Lankisch, Tim O TO; Krawczyk, Marcin M

Publication Date: 2017-08-01

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 28765628

Variant Present in the following documents:

• Main text
• 41598_2017_6268_MOESM1_ESM.pdf
• 41598_2017_Article_6268.pdf

View BVdb publication page

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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: ABCB4: 1769G>A; Arg590Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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The molecular genetics of intrahepatic cholestasis of pregnancy.

Obstetric Medicine

Dixon, P H PH; Williamson, C C

Publication Date: 2008-12

Variant appearance in text: MDR3: R590Q

PubMed Link: 27582788

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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A whole genome analyses of genetic variants in two Kelantan Malay individuals.

The Hugo Journal

Wan Juhari, Wan Khairunnisa WK; Md Tamrin, Nur Aida NA; Mat Daud, Mohd Hanif Ridzuan MH; Isa, Hatin Wan HW; Mohd Nasir, Nurfazreen N; Maran, Sathiya S; Abdul Rajab, Nur Shafawati NS; Ahmad Amin Noordin, Khairul Bariah KB; Nik Hassan, Nik Norliza NN; Tearle, Rick R; Razali, Rozaimi R; Merican, Amir Feisal AF; Zilfalil, Bin Alwi BA

Publication Date: 2014-12

Variant appearance in text: rs45575636

PubMed Link: 27090252

Variant Present in the following documents:

• Main text
• 11568_2014_Article_4.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: rs45575636

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: ABCB4: R590Q

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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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ABCB4: R590Q; rs45575636

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: ABCB4: R590Q

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

View BVdb publication page

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