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: PTEN: 634+5G>C

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Npj Genomic Medicine

Yehia, Lamis L; Ni, Ying Y; Sadler, Tammy T; Frazier, Thomas W TW; Eng, Charis C

Publication Date: 2022-03-03

Variant appearance in text: PTEN: 634+5G>C

PubMed Link: 35241692

Variant Present in the following documents:

• 41525_2022_289_MOESM1_ESM.pdf

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Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Human Mutation

Chen, Hannah Jinlian HJ; Romigh, Todd T; Sesock, Kaitlin K; Eng, Charis C

Publication Date: 2017-10

Variant appearance in text: PTEN: 634+5G>C

PubMed Link: 28677221

Variant Present in the following documents:

• Main text
• HUMU-38-1372.pdf
• HUMU-38-1372-s001.pdf

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