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: NF1: 586+2T>C

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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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1135402791

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 586+2T>C

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

View BVdb publication page

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 586+2T>C

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: NF1: 586+2T>C

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1

View BVdb publication page

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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

International Journal Of Molecular Sciences

Bonatti, Francesco F; Adorni, Alessia A; Matichecchia, Annalisa A; Mozzoni, Paola P; Uliana, Vera V; Pisani, Francesco F; Garavelli, Livia L; Graziano, Claudio C; Gnoli, Maria M; Carli, Diana D; Bigoni, Stefania S; Boschi, Elena E; Martorana, Davide D; Percesepe, Antonio A

Publication Date: 2017-09-29

Variant appearance in text: NF1: 586+2T>C

PubMed Link: 28961165

Variant Present in the following documents:

• ijms-18-02071-s001.pdf

View BVdb publication page

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