Publications:

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

Plos Genetics

Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR

Publication Date: 2020-11

Variant appearance in text: rs682938

PubMed Link: 33226994

Variant Present in the following documents:

• pgen.1008802.s003.xlsx, sheet 1

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Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

Nature Genetics

LeMaire, Scott A SA; McDonald, Merry-Lynn N ML; Guo, Dong-Chuan DC; Russell, Ludivine L; Miller, Charles C CC; Johnson, Ralph J RJ; Bekheirnia, Mir Reza MR; Franco, Luis M LM; Nguyen, Mary M; Pyeritz, Reed E RE; Bavaria, Joseph E JE; Devereux, Richard R; Maslen, Cheryl C; Holmes, Kathryn W KW; Eagle, Kim K; Body, Simon C SC; Seidman, Christine C; Seidman, J G JG; Isselbacher, Eric M EM; Bray, Molly M; Coselli, Joseph S JS; Estrera, Anthony L AL; Safi, Hazim J HJ; Belmont, John W JW; Leal, Suzanne M SM; Milewicz, Dianna M DM

Publication Date: 2011-09-11

Variant appearance in text: rs682938

PubMed Link: 21909107

Variant Present in the following documents:

• Main text

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