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: EBP: 224T>A; Ile75Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: EBP: 224T>A; rs797045153

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

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Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.

Nature Communications

Long, Tao T; Hassan, Abdirahman A; Thompson, Bonne M BM; McDonald, Jeffrey G JG; Wang, Jiawei J; Li, Xiaochun X

Publication Date: 2019-06-05

Variant appearance in text: EBP: 224T>A

PubMed Link: 31165728

Variant Present in the following documents:

• 41467_2019_10279_MOESM1_ESM.pdf

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TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.

Frontiers In Genetics

Sanchez-Pulido, Luis L; Ponting, Chris P CP

Publication Date: 2014

Variant appearance in text: CDPX2: I75N

PubMed Link: 25566323

Variant Present in the following documents:

• Main text
• fgene-05-00439.pdf

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