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: EGFR: 977G>T; Cys326Phe

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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Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas

Machado-Rugolo, J J; Baldavira, C M CM; Prieto, T G TG; Olivieri, E H R EHR; Fabro, A T AT; Rainho, C A CA; Castelli, E C EC; Ribolla, P E M PEM; Ab'Saber, A M AM; Takagaki, T T; Nagai, M A MA; Capelozzi, V L VL

Publication Date: 2023

Variant appearance in text: EGFR: 977G>T; Cys326Phe; rs886037891

PubMed Link: 36629526

Variant Present in the following documents:

• Main text
• 1414-431X-bjmbr-55-e12409.pdf

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: EGFR: C326F

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 4

View BVdb publication page

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Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.

Cancers

Woycinck Kowalski, Thayne T; Brussa Reis, Larissa L; Finger Andreis, Tiago T; Ashton-Prolla, Patricia P; Rosset, Clévia C

Publication Date: 2020-08-26

Variant appearance in text: EGFR: C326F

PubMed Link: 32858845

Variant Present in the following documents:

• Main text
• cancers-12-02416.pdf

View BVdb publication page

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Mutation-Structure-Function Relationship Based Integrated Strategy Reveals the Potential Impact of Deleterious Missense Mutations in Autophagy Related Proteins on Hepatocellular Carcinoma (HCC): A Comprehensive Informatics Approach.

International Journal Of Molecular Sciences

Awan, Faryal Mehwish FM; Obaid, Ayesha A; Ikram, Aqsa A; Janjua, Hussnain Ahmed HA

Publication Date: 2017-01-11

Variant appearance in text: EGFR: C326F

PubMed Link: 28085066

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease.

Cold Spring Harbor Molecular Case Studies

Colby, Samantha S; Yehia, Lamis L; Niazi, Farshad F; Chen, JinLian J; Ni, Ying Y; Mester, Jessica L JL; Eng, Charis C

Publication Date: 2016-11

Variant appearance in text: EGFR: 977G>T; Cys326Phe

PubMed Link: 27900366

Variant Present in the following documents:

• Main text
• ColbyMCS001230.pdf

View BVdb publication page

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