Publications:

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: NOTCH1: V2476M

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: V2476M

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications

Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK

Publication Date: 2020-11-10

Variant appearance in text: NOTCH1: V2476M

PubMed Link: 33172502

Variant Present in the following documents:

• 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Genetic modification of primary human B cells to model high-grade lymphoma.

Nature Communications

Caeser, Rebecca R; Di Re, Miriam M; Krupka, Joanna A JA; Gao, Jie J; Lara-Chica, Maribel M; Dias, João M L JML; Cooke, Susanna L SL; Fenner, Rachel R; Usheva, Zelvera Z; Runge, Hendrik F P HFP; Beer, Philip A PA; Eldaly, Hesham H; Pak, Hyo-Kyung HK; Park, Chan-Sik CS; Vassiliou, George S GS; Huntly, Brian J P BJP; Mupo, Annalisa A; Bashford-Rogers, Rachael J M RJM; Hodson, Daniel J DJ

Publication Date: 2019-10-04

Variant appearance in text: NOTCH1: 7426G>A; Val2476Met; rs763785541

PubMed Link: 31586074

Variant Present in the following documents:

• 41467_2019_12494_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports

Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2019-09-23

Variant appearance in text: rs763785541

PubMed Link: 31548566

Variant Present in the following documents:

• 41598_2019_49611_MOESM1_ESM.pdf

View BVdb publication page

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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: NOTCH1: 7426G>A; Val2476Met; rs763785541

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer.

Medicine

Park, Joonhong J; Yoo, Han Mo HM; Jang, Woori W; Shin, Soyoung S; Kim, Myungshin M; Kim, Yonggoo Y; Lee, Seung-Woo SW; Kim, Jeong Goo JG

Publication Date: 2017-06

Variant appearance in text: NOTCH1: 7426G>A; Val2476Met

PubMed Link: 28640116

Variant Present in the following documents:

• medi-96-e7224.pdf

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: NOTCH1: V2476M

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: NOTCH1: V2476M

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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