Publications:

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Innate-Immunity Genes in Obesity.

Journal Of Personalized Medicine

Mikhailova, Svetlana V SV; Ivanoshchuk, Dinara E DE

Publication Date: 2021-11-14

Variant appearance in text: rs28940579

PubMed Link: 34834553

Variant Present in the following documents:

• Main text
• jpm-11-01201.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MEFV: V726D

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Crawford, Dana C DC; Lin, John J; Cooke Bailey, Jessica N JN; Kinzy, Tyler T; Sedor, John R JR; O'Toole, John F JF; Bush, William S WS

Publication Date: 2020

Variant appearance in text: rs28940579

PubMed Link: 31797629

Variant Present in the following documents:

• Main text
• nihms-1061500.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: rs28940579

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

American Journal Of Human Genetics

, ; ,

Publication Date: 2019-09-05

Variant appearance in text: rs28940579

PubMed Link: 31447099

Variant Present in the following documents:

• Main text

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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: rs28940579

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Molecular Genetics & Genomic Medicine

Fujikura, Kohei K

Publication Date: 2015-07

Variant appearance in text: rs28940579

PubMed Link: 26247045

Variant Present in the following documents:

• Main text
• mgg30003-0272.pdf

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Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

Pediatric Rheumatology Online Journal

De Pieri, Carlo C; Vuch, Josef J; De Martino, Eleonora E; Bianco, Anna M AM; Ronfani, Luca L; Athanasakis, Emmanouil E; Bortot, Barbara B; Crovella, Sergio S; Taddio, Andrea A; Severini, Giovanni M GM; Tommasini, Alberto A

Publication Date: 2015

Variant appearance in text: rs28940579

PubMed Link: 25866490

Variant Present in the following documents:

• Main text

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs28940579

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs28940579

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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