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: 6288C>A; Cys2096*

PubMed Link: 34877242

Variant Present in the following documents:

• Main text

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Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

Molecular Genetics & Genomic Medicine

Bitarafan, Fatemeh F; Razmara, Ehsan E; Khodaeian, Mehrnoosh M; Keramatipour, Mohammad M; Kalhor, Alireza A; Jafarinia, Ehsan E; Garshasbi, Masoud M

Publication Date: 2020-08

Variant appearance in text: FBN1: 6288C>A; Cys2096*

PubMed Link: 32431097

Variant Present in the following documents:

• Main text
• MGG3-8-e1274.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: FBN1: 6288C>A; Cys2096Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page