Publications:

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: FBN1: C102Y

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s004.xlsx, sheet 1

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: FBN1: 305G>A; C102Y

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.

International Journal Of Ophthalmology

Zhai, Yi Y; Wang, Wei W; Zhu, Ya-Nan YN; Li, Jin-Yu JY; Yu, Yin-Hui YH; Lai, Kai-Ran KR; Yao, Ke K

Publication Date: 2015

Variant appearance in text: FBN1: 305G>A; C102Y

PubMed Link: 26558191

Variant Present in the following documents:

• Main text

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