Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ACE: A261T; rs4303

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics of amlodipine and hydrochlorothiazide therapy and the quest for improved control of hypertension: a mini review.

Heart Failure Reviews

Johnson, Rabia R; Dludla, Phiwayinkosi P; Mabhida, Sihle S; Benjeddou, Mongi M; Louw, Johan J; February, Faghri F

Publication Date: 2019-05

Variant appearance in text: rs4303

PubMed Link: 30645721

Variant Present in the following documents:

• Main text
• 10741_2018_Article_9765.pdf

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: ACE: A261T

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

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: rs4303

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Association of factor V gene polymorphism with arteriovenous graft failure.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation

Allon, Michael M; Zhang, Li L; Maya, Ivan D ID; Bray, Molly S MS; Fernandez, Jose R JR; ,

Publication Date: 2012-05

Variant appearance in text: rs4303

PubMed Link: 22281051

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation.

Transplantation

Jacobson, Pamala A PA; Schladt, David D; Oetting, William S WS; Leduc, Robert R; Guan, Weihau W; Matas, Arthur J AJ; Lamba, Vishal V; Mannon, Roslyn B RB; Julian, Bruce A BA; Israni, Ajay A; ,

Publication Date: 2011-02-15

Variant appearance in text: rs4303

PubMed Link: 21107304

Variant Present in the following documents:

• Main text

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SNP-by-fitness and SNP-by-BMI interactions from seven candidate genes and incident hypertension after 20 years of follow-up: the CARDIA Fitness Study.

Journal Of Human Hypertension

Sarzynski, M A MA; Rankinen, T T; Sternfeld, B B; Fornage, M M; Sidney, S S; Bouchard, C C

Publication Date: 2011-08

Variant appearance in text: rs4303

PubMed Link: 20944660

Variant Present in the following documents:

• Main text
• nihms234111.pdf

View BVdb publication page

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