Publications:

Identification of novel FBN1 variations implicated in congenital scoliosis.

Journal Of Human Genetics

Lin, Mao M; Zhao, Sen S; Liu, Gang G; Huang, Yingzhao Y; Yu, Chenxi C; Zhao, Yanxue Y; Wang, Lianlei L; Zhang, Yuanqiang Y; Yan, Zihui Z; Wang, Shengru S; Liu, Sen S; Liu, Jiaqi J; Ye, Yongyu Y; Chen, Yaping Y; Yang, Xu X; Tong, Bingdu B; Wang, Zheng Z; Yang, Xinzhuang X; Niu, Yuchen Y; Li, Xiaoxin X; Wang, Yipeng Y; Su, Jianzhong J; Yuan, Jian J; Zhao, Hengqiang H; Zhang, Shuyang S; Qiu, Guixing G; , ; Ikegawa, Shiro S; Zhang, Jianguo J; Wu, Zhihong Z; Wu, Nan N

Publication Date: 2020-03

Variant appearance in text: FBN1: Gly1796Glu

PubMed Link: 31827250

Variant Present in the following documents:

• Main text
• 10038_2019_Article_698.pdf

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Oral manifestations of a rare variant of Marfan syndrome.

Clinical Case Reports

Sinha, Abhishek A; Kaur, Sandeep S; Raheel, Syed Ahmed SA; Kaur, Kirandeep K; Alshehri, Mohammed M; Kujan, Omar O

Publication Date: 2017-09

Variant appearance in text: FBN1: G1796E

PubMed Link: 28878896

Variant Present in the following documents:

• CCR3-5-1429.pdf

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Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Bmc Musculoskeletal Disorders

Reyes-Hernández, Octavio D OD; Palacios-Reyes, Carmen C; Chávez-Ocaña, Sonia S; Cortés-Malagón, Enoc M EM; Alonso-Themann, Patricia Garcia PG; Ramos-Cano, Víctor V; Ramírez-Bello, Julián J; Sierra-Martínez, Mónica M

Publication Date: 2016-02-15

Variant appearance in text: FBN1: G1796E

PubMed Link: 26875674

Variant Present in the following documents:

• Main text
• 12891_2016_Article_935.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: G1796E

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2
• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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