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: 5243G>T; Cys1748Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Geleophysic dysplasia caused by a mutation in FBN1: A case report.

World Journal Of Clinical Cases

Tao, Ying Y; Wei, Qing Q; Chen, Xun X; Nong, Guang-Min GM

Publication Date: 2021-08-26

Variant appearance in text: FBN1: 5243G>T; C1748F

PubMed Link: 34540975

Variant Present in the following documents:

• Main text
• WJCC-9-7175.pdf

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The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Case Reports In Endocrinology

Globa, Evgenia E; Zelinska, Nataliya N; Dauber, Andrew A

Publication Date: 2018

Variant appearance in text: FBN1: Cys1748Phe

PubMed Link: 30057829

Variant Present in the following documents:

• Main text
• CRIE2018-8212417.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: FBN1: C1748F

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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