Publications:

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Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.

Cancer Management And Research

Wu, Jinchun J; Zhou, Haiyan H; Yi, Xiaoping X; He, Qiongzhi Q; Lei, Tianxiang T; Tan, Fengbo F; Liu, Heli H; Li, Bin B

Publication Date: 2021

Variant appearance in text: KIT: 1799T>A

PubMed Link: 33469372

Variant Present in the following documents:

• Main text
• cmar-13-297.pdf

View BVdb publication page

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NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.

Cancers

Delcourt, Thomas T; Vanneste, Kevin K; Soumali, Mohamed Rida MR; Coucke, Wim W; Ghislain, Vanessa V; Hebrant, Aline A; Van Valckenborgh, Els E; De Keersmaecker, Sigrid C J SCJ; Roosens, Nancy H NH; Van De Walle, Philippe P; Van Den Bulcke, Marc M; Antoniou, Aline A

Publication Date: 2020-10-29

Variant appearance in text: KIT: 1799T>A; Val600Glu

PubMed Link: 33138022

Variant Present in the following documents:

• cancers-12-03180-s001.pdf

View BVdb publication page

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Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Balkan Journal Of Medical Genetics : Bjmg

Staninova-Stojovska, M M; Matevska-Geskovska, N N; Panovski, M M; Angelovska, B B; Mitrevski, N N; Ristevski, M M; Jovanovic, R R; Dimovski, A J AJ

Publication Date: 2019-12

Variant appearance in text: KIT: 1799T>A

PubMed Link: 31942411

Variant Present in the following documents:

• bjmg-22-005.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: F600Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: KIT: 1799T>A

PubMed Link: 31382929

Variant Present in the following documents:

• 12885_2019_5984_MOESM2_ESM.pdf

View BVdb publication page

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Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology

Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC

Publication Date: 2018-10

Variant appearance in text: KIT: 1799T>A

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_Article_2411.pdf

View BVdb publication page

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