Publications:

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Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: NF1: 557A>T; Asp186Val

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s007.xlsx, sheet 3
• ADVS-9-2103360-s002.xlsx, sheet 2

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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Npj Genomic Medicine

Koster, R R; Brandão, R D RD; Tserpelis, D D; van Roozendaal, C E P CEP; van Oosterhoud, C N CN; Claes, K B M KBM; Paulussen, A D C ADC; Sinnema, M M; Vreeburg, M M; van der Schoot, V V; Stumpel, C T R M CTRM; Broen, M P G MPG; Spruijt, L L; Jongmans, M C J MCJ; Lesnik Oberstein, S A J SAJ; Plomp, A S AS; Misra-Isrie, M M; Duijkers, F A FA; Louwers, M J MJ; Szklarczyk, R R; Derks, K W J KWJ; Brunner, H G HG; van den Wijngaard, A A; van Geel, M M; Blok, M J MJ

Publication Date: 2021-11-15

Variant appearance in text: NF1: 557A>T

PubMed Link: 34782607

Variant Present in the following documents:

• 41525_2021_Article_258.pdf

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Fetal-Derived Immune Cells at the Roots of Lifelong Pathophysiology.

Frontiers In Cell And Developmental Biology

Mass, Elvira E; Gentek, Rebecca R

Publication Date: 2021

Variant appearance in text: NF1: D186V

PubMed Link: 33708774

Variant Present in the following documents:

• Main text
• fcell-09-648313.pdf

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Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

International Journal Of Molecular Sciences

Grodecká, Lucie L; Buratti, Emanuele E; Freiberger, Tomáš T

Publication Date: 2017-07-31

Variant appearance in text: NF1: 557A>T

PubMed Link: 28758972

Variant Present in the following documents:

• Main text
• ijms-18-01668.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NF1: D186V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NF1: D186V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: D186V

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research

Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C

Publication Date: 2009-05

Variant appearance in text: NF1: 557A>T

PubMed Link: 19339519

Variant Present in the following documents:

• Main text
• gkp215.pdf

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