Publications:

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study.

Bmc Musculoskeletal Disorders

de Azevedo, Gustavo Borges Laurindo GBL; Perini, Jamila Alessandra JA; Araújo Junior, Antônio Eulálio Pedrosa AEP; Moliterno, Luis Antonio Medeiros LAM; Andrande, Rodrigo Mantelatto RM; Guimarães, João Antonio Matheus JAM; Defino, Helton Luiz Aparecido HLA

Publication Date: 2022-05-07

Variant appearance in text: rs12916536

PubMed Link: 35526034

Variant Present in the following documents:

• Main text
• 12891_2022_Article_5370.pdf

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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: rs12916536

PubMed Link: 33226994

Variant Present in the following documents:

• pgen.1008802.s003.xlsx, sheet 1

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