Publications:

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: RET: 2711C>A; S904Y

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: RET: S904Y

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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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: RET: 2711C>A; Ser904Tyr

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

View BVdb publication page

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Integrative annotation and knowledge discovery of kinase post-translational modifications and cancer-associated mutations through federated protein ontologies and resources.

Scientific Reports

Huang, Liang-Chin LC; Ross, Karen E KE; Baffi, Timothy R TR; Drabkin, Harold H; Kochut, Krzysztof J KJ; Ruan, Zheng Z; D'Eustachio, Peter P; McSkimming, Daniel D; Arighi, Cecilia C; Chen, Chuming C; Natale, Darren A DA; Smith, Cynthia C; Gaudet, Pascale P; Newton, Alexandra C AC; Wu, Cathy C; Kannan, Natarajan N

Publication Date: 2018-04-25

Variant appearance in text: RET: S904Y

PubMed Link: 29695735

Variant Present in the following documents:

• 41598_2018_24457_MOESM1_ESM.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: RET: S904Y

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

Plos One

Qi, Xiao-Ping XP; Ma, Ju-Ming JM; Du, Zhen-Fang ZF; Ying, Rong-Biao RB; Fei, Jun J; Jin, Hang-Yang HY; Han, Jian-Shan JS; Wang, Jin-Quan JQ; Chen, Xiao-Ling XL; Chen, Chun-Yue CY; Liu, Wen-Ting WT; Lu, Jia-Jun JJ; Zhang, Jian-Guo JG; Zhang, Xian-Ning XN

Publication Date: 2011

Variant appearance in text: RET: S904Y

PubMed Link: 21655256

Variant Present in the following documents:

• Main text
• pone.0020353.pdf

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