Publications:

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Human Molecular Genetics

Jordan, Valerie K VK; Beck, Tyler F TF; Hernandez-Garcia, Andres A; Kundert, Peter N PN; Kim, Bum-Jun BJ; Jhangiani, Shalini N SN; Gambin, Tomasz T; Starkovich, Molly M; Punetha, Jaya J; Paine, Ingrid S IS; Posey, Jennifer E JE; Li, Alexander H AH; Muzny, Donna D; Hsu, Chih-Wei CW; Lashua, Amber J AJ; Sun, Xin X; Fernandes, Caraciolo J CJ; Dickinson, Mary E ME; Lally, Kevin P KP; Gibbs, Richard A RA; Boerwinkle, Eric E; Lupski, James R JR; Scott, Daryl A DA

Publication Date: 2018-06-15

Variant appearance in text: FBN1: 6479C>T; Ala2160Val

PubMed Link: 29618029

Variant Present in the following documents:

• Main text

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