Publications:

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association

Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H

Publication Date: 2023-04-12

Variant appearance in text: FBN1: Ser634Pro; rs1566914005

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625-s001.pdf
• JAH3-12-e028625.pdf

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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: S634P

PubMed Link: 12446365

Variant Present in the following documents:

• Main text

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