Publications:

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In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

International Journal Of Molecular Sciences

Accetturo, Matteo M; Bartolomeo, Nicola N; Stella, Alessandro A

Publication Date: 2020-01-22

Variant appearance in text: NF1: Leu847Phe

PubMed Link: 31979111

Variant Present in the following documents:

• Main text
• ijms-21-00721.pdf

View BVdb publication page

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Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.

Pigment Cell & Melanoma Research

Sanna, Adriana A; Harbst, Katja K; Johansson, Iva I; Christensen, Gustav G; Lauss, Martin M; Mitra, Shamik S; Rosengren, Frida F; Häkkinen, Jari J; Vallon-Christersson, Johan J; Olsson, Håkan H; Ingvar, Åsa Å; Isaksson, Karolin K; Ingvar, Christian C; Nielsen, Kari K; Jönsson, Göran G

Publication Date: 2020-05

Variant appearance in text: NF1: 2539C>T

PubMed Link: 31811783

Variant Present in the following documents:

• PCMR-33-480-s003.xls, sheet 1

View BVdb publication page

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Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature Communications

Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N

Publication Date: 2019-10-17

Variant appearance in text: NF1: 2539C>T; L847F

PubMed Link: 31624251

Variant Present in the following documents:

• 41467_2019_12746_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Journal Of Cancer

Lu, Bingjian B; Shi, Haiyan H

Publication Date: 2019

Variant appearance in text: NF1: 2539C>T

PubMed Link: 30662543

Variant Present in the following documents:

• Main text
• jcav10p0223.pdf

View BVdb publication page

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs753552408

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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: 2539C>T

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1
• NIHMS958974-supplement-5.xlsx, sheet 1

View BVdb publication page

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Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology

Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW

Publication Date: 2014-11-27

Variant appearance in text: NF1: L847F

PubMed Link: 25428177

Variant Present in the following documents:

• 40360_2014_350_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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