Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FBN1: 1302T>A; Tyr434Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts.

Scientific Reports

Umeyama, Kazuhiro K; Watanabe, Kota K; Watanabe, Masahito M; Horiuchi, Keisuke K; Nakano, Kazuaki K; Kitashiro, Masateru M; Matsunari, Hitomi H; Kimura, Tokuhiro T; Arima, Yoshimi Y; Sampetrean, Oltea O; Nagaya, Masaki M; Saito, Masahiro M; Saya, Hideyuki H; Kosaki, Kenjiro K; Nagashima, Hiroshi H; Matsumoto, Morio M

Publication Date: 2016-04-14

Variant appearance in text: FBN1: Tyr434X

PubMed Link: 27074716

Variant Present in the following documents:

• Main text
• srep24413.pdf

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Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics

Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U

Publication Date: 2002-08

Variant appearance in text: FBN1: Y434X

PubMed Link: 12068374

Variant Present in the following documents:

• Main text

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