Publications:

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Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.

International Journal Of Molecular Sciences

Williams, Kori K; Segard, Allison A; Graf, Gregory A GA

Publication Date: 2021-03-05

Variant appearance in text: ABCG8: G574E

PubMed Link: 33807969

Variant Present in the following documents:

• Main text
• ijms-22-02641.pdf

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Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters

Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY

Publication Date: 2020-12

Variant appearance in text: ABCG8: G574E

PubMed Link: 32978801

Variant Present in the following documents:

• Main text

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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: ABCG8: G574E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: ABCG8: G574E

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

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Mutational studies of G553 in TM5 of ABCG2: a residue potentially involved in dimerization.

Biochemistry

Polgar, Orsolya O; Ozvegy-Laczka, Csilla C; Robey, Robert W RW; Morisaki, Kuniaki K; Okada, Masaki M; Tamaki, Akina A; Koblos, Gabriella G; Elkind, N Barry NB; Ward, Yvona Y; Dean, Michael M; Sarkadi, Balazs B; Bates, Susan E SE

Publication Date: 2006-04-25

Variant appearance in text: ABCG8: G574E

PubMed Link: 16618113

Variant Present in the following documents:

• Main text

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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics

Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB

Publication Date: 2001-08

Variant appearance in text: ABCG8: Gly574Glu

PubMed Link: 11452359

Variant Present in the following documents:

• Main text

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Genetic basis of sitosterolemia.

Current Opinion In Lipidology

Lee, M H MH; Lu, K K; Patel, S B SB

Publication Date: 2001-04

Variant appearance in text: ABCG8: Gly574Glu

PubMed Link: 11264985

Variant Present in the following documents:

• Main text

View BVdb publication page

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