Publications:

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: FBN1: C2571R

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning.

Molecular Syndromology

Martínez-Quintana, Efrén E; Caballero-Sánchez, Noemí N; Rodríguez-González, Fayna F; Garay-Sánchez, Paloma P; Tugores, Antonio A

Publication Date: 2017-05

Variant appearance in text: FBN1: C2571R

PubMed Link: 28588436

Variant Present in the following documents:

• Main text

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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports

Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z

Publication Date: 2016-09-09

Variant appearance in text: FBN1: 7711T>C; Cys2571Arg

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

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