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: NF1: 3212del; Ala1071fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases

Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH

Publication Date: 2022-01-29

Variant appearance in text: NF1: 3212del; A1071fs

PubMed Link: 35093157

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2174.pdf

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Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases

Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH

Publication Date: 2022-01-29

Variant appearance in text: NF1: 3212del; A1071fs

PubMed Link: 35093157

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2174.pdf

View BVdb publication page