Publications:

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 1910G>A; Cys637Tyr

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

View BVdb publication page

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: FBN1: 1910G>A; Cys637Tyr

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s003.xlsx, sheet 1

View BVdb publication page

Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.

Molecular Vision

Zhao, Feng F; Pan, Xinyuan X; Zhao, Kanxing K; Zhao, Chen C

Publication Date: 2013

Variant appearance in text: FBN1: 1910G>A; C637Y

PubMed Link: 23592911

Variant Present in the following documents:

• Main text
• mv-v19-751.pdf

View BVdb publication page