Publications:

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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Koleske, Megan L ML; McInnes, Gregory G; Brown, Julia E H JEH; Thomas, Neil N; Hutchinson, Keino K; Chin, Marcus Y MY; Koehl, Antoine A; Arkin, Michelle R MR; Schlessinger, Avner A; Gallagher, Renata C RC; Song, Yun S YS; Altman, Russ B RB; Giacomini, Kathleen M KM

Publication Date: 2022-11-16

Variant appearance in text: SLC22A5: 1441G>T

PubMed Link: 36343260

Variant Present in the following documents:

• pnas.2210247119.sd01.xlsx, sheet 7

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: rs11568513

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.

Journal Of Personalized Medicine

Lozano, Elisa E; Briz, Oscar O; Macias, Rocio I R RIR; Serrano, Maria A MA; Marin, Jose J G JJG; Herraez, Elisa E

Publication Date: 2018-04-16

Variant appearance in text: SLC22A5: V481F

PubMed Link: 29659532

Variant Present in the following documents:

• Main text
• jpm-08-00014.pdf

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs11568513

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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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: CDSP: V481F; rs11568513

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: SLC22A5: V481F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Genetic variation in drug transporters in ethnic populations.

Clinical Pharmacology And Therapeutics

Cropp, C D CD; Yee, S W SW; Giacomini, K M KM

Publication Date: 2008-09

Variant appearance in text: OCTN2: Val481Phe

PubMed Link: 18528433

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiomyopathy and carnitine deficiency.

Molecular Genetics And Metabolism

Amat di San Filippo, Cristina C; Taylor, Matthew R G MR; Mestroni, Luisa L; Botto, Lorenzo D LD; Longo, Nicola N

Publication Date: 2008-06

Variant appearance in text: SLC22A5: V481F

PubMed Link: 18337137

Variant Present in the following documents:

• Main text

View BVdb publication page

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