Publications:

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.

Bmc Medical Genetics

Pepe, Guglielmina G; Nistri, Stefano S; Giusti, Betti B; Sticchi, Elena E; Attanasio, Monica M; Porciani, Cristina C; Abbate, Rosanna R; Bonow, Robert O RO; Yacoub, Magdi M; Gensini, Gian Franco GF

Publication Date: 2014-02-24

Variant appearance in text: FBN1: Arg636Ile

PubMed Link: 24564502

Variant Present in the following documents:

• Main text
• 1471-2350-15-23.pdf

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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: R636I

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: FBN1: R636I

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

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