Publications:

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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: BRCA2: 7579del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 7579del; Val2527*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s011.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 1

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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: BRCA2: 7579delG; Val2527Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

Journal Of The Endocrine Society

França, Monica Malheiros MM; Mendonca, Berenice Bilharinho BB

Publication Date: 2020-02-01

Variant appearance in text: BRCA2: 7579delG; Val2527*

PubMed Link: 32099950

Variant Present in the following documents:

• Main text
• bvz037.pdf

View BVdb publication page

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Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Haematologica

Steinberg-Shemer, Orna O; Goldberg, Tracie A TA; Yacobovich, Joanne J; Levin, Carina C; Koren, Ariel A; Revel-Vilk, Shoshana S; Ben-Ami, Tal T; Kuperman, Amir A AA; Zemer, Vered Shkalim VS; Toren, Amos A; Kapelushnik, Joseph J; Ben-Barak, Ayelet A; Miskin, Hagit H; Krasnov, Tanya T; Noy-Lotan, Sharon S; Dgany, Orly O; Tamary, Hannah H

Publication Date: 2020-07

Variant appearance in text: FANCD1: 7579delG

PubMed Link: 31558676

Variant Present in the following documents:

• 1051825.pdf

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Essential Role of BRCA2 in Ovarian Development and Function.

The New England Journal Of Medicine

Weinberg-Shukron, Ariella A; Rachmiel, Mariana M; Renbaum, Paul P; Gulsuner, Suleyman S; Walsh, Tom T; Lobel, Orit O; Dreifuss, Amatzia A; Ben-Moshe, Avital A; Zeligson, Sharon S; Segel, Reeval R; Shore, Tikva T; Kalifa, Rachel R; Goldberg, Michal M; King, Mary-Claire MC; Gerlitz, Offer O; Levy-Lahad, Ephrat E; Zangen, David D

Publication Date: 2018-09-13

Variant appearance in text: BRCA2: 7579delG; V2527X

PubMed Link: 30207912

Variant Present in the following documents:

• Main text

View BVdb publication page

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