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: 6296G>T; Cys2099Phe

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 6296G>T; Cys2099Phe; rs1131691803

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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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: 6296G>T; C2099F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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