Publications:

Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBN1: 6453C>G; Cys2151Trp

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 6453C>G; C2151W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: FBN1: 6453C>G; C2151W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Switch region for pathogenic structural change in conformational disease and its prediction.

Plos One

Liu, Xin X; Zhao, Ya-Pu YP

Publication Date: 2010-01-11

Variant appearance in text: FBN1: C2151W

PubMed Link: 20111584

Variant Present in the following documents:

• pone.0008441.s001.pdf

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