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: rs12441775

PubMed Link: 33226994

Variant Present in the following documents:

• pgen.1008802.s003.xlsx, sheet 1

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A positively selected FBN1 missense variant reduces height in Peruvian individuals.

Nature

Asgari, Samira S; Luo, Yang Y; Akbari, Ali A; Belbin, Gillian M GM; Li, Xinyi X; Harris, Daniel N DN; Selig, Martin M; Bartell, Eric E; Calderon, Roger R; Slowikowski, Kamil K; Contreras, Carmen C; Yataco, Rosa R; Galea, Jerome T JT; Jimenez, Judith J; Coit, Julia M JM; Farroñay, Chandel C; Nazarian, Rosalynn M RM; O'Connor, Timothy D TD; Dietz, Harry C HC; Hirschhorn, Joel N JN; Guio, Heinner H; Lecca, Leonid L; Kenny, Eimear E EE; Freeman, Esther E EE; Murray, Megan B MB; Raychaudhuri, Soumya S

Publication Date: 2020-06

Variant appearance in text: rs12441775

PubMed Link: 32499652

Variant Present in the following documents:

• Main text

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