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: 1955G>A; Cys652Tyr

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

View BVdb publication page

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: FBN1: C652Y

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

The British Journal Of Ophthalmology

Comeglio, P P; Evans, A L AL; Brice, G G; Cooling, R J RJ; Child, A H AH

Publication Date: 2002-12

Variant appearance in text: FBN1: C652Y

PubMed Link: 12446365

Variant Present in the following documents:

• Main text

View BVdb publication page