Publications:

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.

Bioscience Reports

Wu, Yuduo Y; Sun, Hairui H; Wang, Jianbin J; Wang, Xin X; Gong, Ming M; Han, Lu L; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-12-23

Variant appearance in text: FBN1: C570R

PubMed Link: 33200202

Variant Present in the following documents:

• Main text
• bsr-40-bsr20203356.pdf

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Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Molecular Genetics & Genomic Medicine

Xu, Shijun S; Li, Lei L; Fu, Yuwei Y; Wang, Xin X; Sun, Hairui H; Wang, Jianbin J; Han, Lu L; Wu, Zining Z; Liu, Yongmin Y; Zhu, Junming J; Sun, Lizhong L; Lan, Feng F; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-01

Variant appearance in text: FBN1: C570R

PubMed Link: 31830381

Variant Present in the following documents:

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A novel FBN1 mutation causes autosomal dominant Marfan syndrome.

Molecular Medicine Reports

Xiao, Ying Y; Liu, Xiaoqi X; Guo, Xiaoxin X; Liu, Liping L; Jiang, Linxin L; Wang, Qi Q; Gong, Bo B

Publication Date: 2017-11

Variant appearance in text: FBN1: C570R

PubMed Link: 28944857

Variant Present in the following documents:

• Main text
• mmr-16-05-7321.pdf

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A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.

Molecular Syndromology

Martínez-Quintana, E E; Rodríguez-González, F F; Garay-Sánchez, P P; Tugores, A A

Publication Date: 2014-08

Variant appearance in text: FBN1: C570R

PubMed Link: 25337071

Variant Present in the following documents:

• Main text

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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: C570R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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