Publications:

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics

Dagli-Hernandez, Carolina C; Borges, Jéssica Bassani JB; Marçal, Elisangela da Silva Rodrigues EDSR; de Freitas, Renata Caroline Costa RCC; Mori, Augusto Akira AA; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; de Oliveira, Victor Fernandes VF; Ferreira, Glaucio Monteiro GM; Bastos, Gisele Medeiros GM; Zhou, Yitian Y; Lauschke, Volker M VM; Cerda, Alvaro A; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2022-04-27

Variant appearance in text: SLC15A1: 364G>A; Val122Met; rs8187820

PubMed Link: 35631530

Variant Present in the following documents:

• pharmaceutics-14-00944.pdf

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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: rs8187820

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: rs8187820

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: SLC15A1: V122M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: SLC15A1: V122M; rs8187820

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page