Publications:

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Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Medrxiv : The Preprint Server For Health Sciences

Lewis, Morag A MA; Schulte, Jennifer J; Matthews, Lois L; Vaden, Kenneth I KI; Steves, Claire J CJ; Williams, Frances M K FMK; Schulte, Bradley A BA; Dubno, Judy R JR; Steel, Karen P KP

Publication Date: 2023-04-29

Variant appearance in text: rs130060

PubMed Link: 37163093

Variant Present in the following documents:

• nihpp-2023.04.27.23289040v1.pdf

View BVdb publication page

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Dynamic spatiotemporal determinants modulate GPCR:G protein coupling selectivity and promiscuity.

Nature Communications

Sandhu, Manbir M; Cho, Aaron A; Ma, Ning N; Mukhaleva, Elizaveta E; Namkung, Yoon Y; Lee, Sangbae S; Ghosh, Soumadwip S; Lee, John H JH; Gloriam, David E DE; Laporte, Stéphane A SA; Babu, M Madan MM; Vaidehi, Nagarajan N

Publication Date: 2022-12-02

Variant appearance in text: rs130060

PubMed Link: 36460632

Variant Present in the following documents:

• 41467_2022_34055_MOESM11_ESM.xlsx, sheet 5

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Attention-deficit/hyperactive disorder updates.

Frontiers In Molecular Neuroscience

Kessi, Miriam M; Duan, Haolin H; Xiong, Juan J; Chen, Baiyu B; He, Fang F; Yang, Lifen L; Ma, Yanli Y; Bamgbade, Olumuyiwa A OA; Peng, Jing J; Yin, Fei F

Publication Date: 2022

Variant appearance in text: rs130060

PubMed Link: 36211978

Variant Present in the following documents:

• Main text
• fnmol-15-925049.pdf

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Effects of HTR1B 3' region polymorphisms and functional regions on gene expression regulation.

Bmc Genetics

Xia, Xi X; Ding, Mei M; Xuan, Jin-Feng JF; Xing, Jia-Xin JX; Pang, Hao H; Yao, Jun J; Wu, Xue X; Wang, Bao-Jie BJ

Publication Date: 2020-07-20

Variant appearance in text: rs130060

PubMed Link: 32689951

Variant Present in the following documents:

• Main text
• 12863_2020_Article_886.pdf

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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: rs130060

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: HTR1B: F124S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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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: rs130060

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Different phenotypic and genotypic presentations in alcohol dependence: age at onset matters.

Journal Of Studies On Alcohol And Drugs

Chen, Yu-Chu YC; Prescott, Carol A CA; Walsh, Dermot D; Patterson, Diana G DG; Riley, Brien P BP; Kendler, Kenneth S KS; Kuo, Po-Hsiu PH

Publication Date: 2011-09

Variant appearance in text: rs130060

PubMed Link: 21906503

Variant Present in the following documents:

• Main text

View BVdb publication page

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