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: MSH6: 478C>T; Gln160Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 478C>T; Q160X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

Neuro-Oncology

Erson-Omay, E Zeynep EZ; Çağlayan, Ahmet Okay AO; Schultz, Nikolaus N; Weinhold, Nils N; Omay, S Bülent SB; Özduman, Koray K; Köksal, Yavuz Y; Li, Jie J; Serin Harmancı, Akdes A; Clark, Victoria V; Carrión-Grant, Geneive G; Baranoski, Jacob J; Çağlar, Caner C; Barak, Tanyeri T; Coşkun, Süleyman S; Baran, Burçin B; Köse, Doğan D; Sun, Jia J; Bakırcıoğlu, Mehmet M; Moliterno Günel, Jennifer J; Pamir, M Necmettin MN; Mishra-Gorur, Ketu K; Bilguvar, Kaya K; Yasuno, Katsuhito K; Vortmeyer, Alexander A; Huttner, Anita J AJ; Sander, Chris C; Günel, Murat M

Publication Date: 2015-10

Variant appearance in text: MSH6: Q160X

PubMed Link: 25740784

Variant Present in the following documents:

• Main text

View BVdb publication page