Publications:

Updated genetic studies of Marfan syndrome in China.

Intractable & Rare Diseases Research

Sun, Yuxin Y; Zhou, Di D; Wang, Shouhua S; Ding, Jun J; Ma, Fei F

Publication Date: 2021-11

Variant appearance in text: FBN1: 8034C>A; Y2678*

PubMed Link: 34877242

Variant Present in the following documents:

• Main text

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Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome.

Peerj

Pu, Zhening Z; Sun, Haoliang H; Du, Junjie J; Cheng, Yue Y; He, Keshuai K; Ni, Buqing B; Gu, Weidong W; Dai, Juncheng J; Shao, Yongfeng Y

Publication Date: 2018

Variant appearance in text: FBN1: 8034C>A; Y2678*

PubMed Link: 30479897

Variant Present in the following documents:

• Main text
• peerj-06-5927.pdf

View BVdb publication page