Publications:

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Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation.

Balkan Journal Of Medical Genetics : Bjmg

Sayın Kocakap, D B DB; Gündüz, Ö Ö; Özer, L L; Durak, M M

Publication Date: 2021-11

Variant appearance in text: NF1: 5392C>T; Gln1798Ter

PubMed Link: 36249525

Variant Present in the following documents:

• Main text
• bjmg-24-099.pdf

View BVdb publication page

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: NF1: Q1798X

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet Journal Of Rare Diseases

Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H

Publication Date: 2019-09-18

Variant appearance in text: NF1: Gln1798*

PubMed Link: 31533797

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1196.pdf

View BVdb publication page

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Genomic characterization of metastatic ultra-hypermutated interdigitating dendritic cell sarcoma through rapid research autopsy.

Oncotarget

Chen, Hui-Zi HZ; Bonneville, Russell R; Yu, Lianbo L; Wing, Michele R MR; Reeser, Julie W JW; Krook, Melanie A MA; Miya, Jharna J; Samorodnitsky, Eric E; Smith, Amy A; Martin, Dorrelyn D; Dao, Thuy T; Guo, Qishan Q; Liebner, David D; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S

Publication Date: 2019-01-08

Variant appearance in text: NF1: Q1798X

PubMed Link: 30719225

Variant Present in the following documents:

• oncotarget-10-277-s006.xlsx, sheet 3
• oncotarget-10-277-s002.xlsx, sheet 7
• oncotarget-10-277-s002.xlsx, sheet 5
• oncotarget-10-277-s002.xlsx, sheet 6
• oncotarget-10-277-s002.xlsx, sheet 4
• oncotarget-10-277-s002.xlsx, sheet 8
• oncotarget-10-277-s002.xlsx, sheet 3
• oncotarget-10-277-s002.xlsx, sheet 1
• oncotarget-10-277-s002.xlsx, sheet 9
• oncotarget-10-277-s002.xlsx, sheet 2
• oncotarget-10-277-s002.xlsx, sheet 10

View BVdb publication page

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Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature

Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK

Publication Date: 2019-01

Variant appearance in text: NF1: 5392C>T; Q1798*

PubMed Link: 30675060

Variant Present in the following documents:

• NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1

View BVdb publication page

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A Retrospective Analysis of Precision Medicine Outcomes in Patients With Advanced Cancer Reveals Improved Progression-Free Survival Without Increased Health Care Costs.

Journal Of Oncology Practice

Haslem, Derrick S DS; Van Norman, S Burke SB; Fulde, Gail G; Knighton, Andrew J AJ; Belnap, Tom T; Butler, Allison M AM; Rhagunath, Sharanya S; Newman, David D; Gilbert, Heather H; Tudor, Brian P BP; Lin, Karen K; Stone, Gary R GR; Loughmiller, David L DL; Mishra, Pravin J PJ; Srivastava, Rajendu R; Ford, James M JM; Nadauld, Lincoln D LD

Publication Date: 2017-02

Variant appearance in text: NF1: Q1798*

PubMed Link: 27601506

Variant Present in the following documents:

• JOP.2016.011486.pdf

View BVdb publication page

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