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: NF1: 3040A>T; Lys1014Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: NF1: K1014*

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Orphanet Journal Of Rare Diseases

Assunto, Antonia A; Ferrara, Ursula U; De Luca, Alessandro A; Pivonello, Claudia C; Lombardo, Lisa L; Piscitelli, Annapina A; Tortora, Cristina C; Pinna, Valentina V; Daniele, Paola P; Pivonello, Rosario R; Russo, Maria Giovanna MG; Limongelli, Giuseppe G; Colao, Annamaria A; Tartaglia, Marco M; Strisciuglio, Pietro P; Melis, Daniela D

Publication Date: 2019-11-15

Variant appearance in text: NF1: 3040A>T; Lys1014*

PubMed Link: 31730495

Variant Present in the following documents:

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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: 3040A>T; Lys1014*

PubMed Link: 28961165

Variant Present in the following documents:

• ijms-18-02071-s001.pdf

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