Publications:

Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: FBN1: H1041H

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4

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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Biomed Research International

Torrado, Mario M; Maneiro, Emilia E; Trujillo-Quintero, Juan Pablo JP; Evangelista, Arturo A; Mikhailov, Alexander T AT; Monserrat, Lorenzo L

Publication Date: 2018

Variant appearance in text: FBN1: 3123C>T; His1041=; rs576395584

PubMed Link: 30003093

Variant Present in the following documents:

• Main text
• BMRI2018-3536495.pdf

View BVdb publication page