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: F8: 1569G>T; Leu523=

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Genes

Shi, Mengmeng M; Liauw, Angeline Linna AL; Tong, Steve S; Zheng, Yu Y; Leung, Tak Yeung TY; Chong, Shuk Ching SC; Cao, Ye Y; Lau, Tze Kin TK; Choy, Kwong Wai KW; Chung, Jacqueline P W JPW

Publication Date: 2021-03-29

Variant appearance in text: F8: 1569G>T; Leu523=

PubMed Link: 33805278

Variant Present in the following documents:

• Main text
• genes-12-00496.pdf

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Genetic causes of haemophilia in women and girls.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Miller, Connie H CH; Bean, Christopher J CJ

Publication Date: 2021-03

Variant appearance in text: F8: 1569G>T; Leu523Leu

PubMed Link: 33314404

Variant Present in the following documents:

• Main text

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Prenatal Diagnosis of Cystic Fibrosis and Hemophilia: Incidental Findings and Weak Points.

Diagnostics (Basel, Switzerland)

Comegna, Marika M; Maruotti, Giuseppe Maria GM; Sarno, Laura L; Cernera, Gustavo G; Gelzo, Monica M; Guida, Maurizio M; Zullo, Fulvio F; Zarrilli, Federica F; Castaldo, Giuseppe G

Publication Date: 2019-12-21

Variant appearance in text: F8C: L523L

PubMed Link: 31877800

Variant Present in the following documents:

• Main text
• diagnostics-10-00007.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: F8: 1569G>T; Leu523Leu

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Haemophilia A: the consequences of de novo mutations. Two case reports.

Blood Transfusion = Trasfusione Del Sangue

Zarrilli, Federica F; Coppola, Antonio A; Schiavulli, Michele M; Cimino, Ernesto E; Elce, Ausilia A; Rescigno, Giuseppe G; Castaldo, Giuseppe G; Amato, Felice F

Publication Date: 2018-07

Variant appearance in text: F8: 1569G>T; Leu523Leu

PubMed Link: 28488976

Variant Present in the following documents:

• Main text

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