Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NOTCH1: Q1957P; rs201174576

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genomic and immune microenvironment profiling in a case of metastatic intrathyroid thymic carcinoma.

Clinical Case Reports

Ishii, Hiroki H; Tsujikawa, Takahiro T; Oishi, Naoki N; Kinouchi, Arisa A; Sakamoto, Kaname K; Mitsuda, Junichi J; Ogi, Hiroshi H; Itoh, Kyoko K; Kondo, Tetsuo T; Hirano, Shigeru S; Sakurai, Daiju D

Publication Date: 2022-07

Variant appearance in text: NOTCH1: 5870A>C

PubMed Link: 35865779

Variant Present in the following documents:

• CCR3-10-e6050.pdf

View BVdb publication page

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Epstein-Barr Virus-Oral Bacterial Link in the Development of Oral Squamous Cell Carcinoma.

Pathogens (Basel, Switzerland)

Núñez-Acurio, Daniela D; Bravo, Denisse D; Aguayo, Francisco F

Publication Date: 2020-12-18

Variant appearance in text: NOTCH1: Q1957P

PubMed Link: 33352891

Variant Present in the following documents:

• Main text
• pathogens-09-01059.pdf

View BVdb publication page

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The Application of Next-Generation Sequencing to Define Factors Related to Oral Cancer and Discover Novel Biomarkers.

Life (Basel, Switzerland)

Kim, Soyeon S; Lee, Joo Won JW; Park, Young-Seok YS

Publication Date: 2020-10-02

Variant appearance in text: NOTCH1: Gln1957Pro

PubMed Link: 33023080

Variant Present in the following documents:

• Main text
• life-10-00228.pdf

View BVdb publication page

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Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Scientific Reports

Nanki, Yoshiko Y; Chiyoda, Tatsuyuki T; Hirasawa, Akira A; Ookubo, Aki A; Itoh, Manabu M; Ueno, Masaru M; Akahane, Tomoko T; Kameyama, Kaori K; Yamagami, Wataru W; Kataoka, Fumio F; Aoki, Daisuke D

Publication Date: 2020-07-28

Variant appearance in text: NOTCH1: 5870A>C

PubMed Link: 32724113

Variant Present in the following documents:

• 41598_2020_69488_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Variants in FAT1 and COL9A1 genes in male population with or without substance use to assess the risk factors for oral malignancy.

Plos One

Chung, Chia-Min CM; Hung, Chung-Chieh CC; Lee, Chien-Hung CH; Lee, Chi-Pin CP; Lee, Ka-Wo KW; Chen, Mu-Kuan MK; Yeh, Kun-Tu KT; Ko, Ying-Chin YC

Publication Date: 2019

Variant appearance in text: rs201174576

PubMed Link: 30657779

Variant Present in the following documents:

• Main text
• pone.0210901.pdf

View BVdb publication page

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Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget

Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y

Publication Date: 2017-08-29

Variant appearance in text: NOTCH1: Gln1957Pro

PubMed Link: 28938622

Variant Present in the following documents:

• Main text
• oncotarget-08-59113-s006.xlsx, sheet 1
• oncotarget-08-59113.pdf
• oncotarget-08-59113-s007.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: NOTCH1: Q1957P; rs201174576

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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