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: COL4A5: 1738C>T; Gln580Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience

Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH

Publication Date: 2022-03-18

Variant appearance in text: COL4A5: Q580X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

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Peritoneal Metastasis After Treated With Abemaciclib Plus Fulvestrant for Metastatic Invasive Lobular Breast Cancer: A Case Report and Review of the Literature.

Frontiers In Endocrinology

Gao, Hong-Fei HF; Zhang, Jun-Sheng JS; Zhang, Qiang-Zu QZ; Zhu, Teng T; Yang, Ci-Qiu CQ; Zhang, Liu-Lu LL; Yang, Mei M; Ji, Fei F; Li, Jie-Qing JQ; Cheng, Min-Yi MY; Niu, Gang G; Wang, Kun K

Publication Date: 2021

Variant appearance in text: COL4A5: 1738C>T; Q580X

PubMed Link: 34690920

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 1

View BVdb publication page