Publications:

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Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology

He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W

Publication Date: 2023

Variant appearance in text: BRCA2: 943T>A; C315S; rs79483201

PubMed Link: 36910641

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 8

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: BRCA2: C315S

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Replication gap suppression depends on the double-strand DNA binding activity of BRCA2.

Nature Communications

Vugic, Domagoj D; Dumoulin, Isaac I; Martin, Charlotte C; Minello, Anna A; Alvaro-Aranda, Lucia L; Gomez-Escudero, Jesus J; Chaaban, Rady R; Lebdy, Rana R; von Nicolai, Catharina C; Boucherit, Virginie V; Ribeyre, Cyril C; Constantinou, Angelos A; Carreira, Aura A

Publication Date: 2023-01-27

Variant appearance in text: BRCA2: C315S

PubMed Link: 36707518

Variant Present in the following documents:

• Main text
• 41467_2023_36149_MOESM1_ESM.pdf
• 41467_2023_36149_MOESM2_ESM.pdf
• 41467_2023_Article_36149.pdf

View BVdb publication page

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Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs79483201

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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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: BRCA2: C315S; rs79483201

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: BRCA2: C315S

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery

Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT

Publication Date: 2022-11-02

Variant appearance in text: BRCA2: C315S

PubMed Link: 35960210

Variant Present in the following documents:

• bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10

View BVdb publication page

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Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.

Frontiers In Surgery

Zhao, Mingkun M; Lin, Xiaohan X; Fang, Yuan Y; Zhuang, Aobo A; Tong, Hanxing H; Lu, Weiqi W; Zhou, Yuhong Y; Zhang, Yong Y

Publication Date: 2022

Variant appearance in text: BRCA2: C315S

PubMed Link: 35903259

Variant Present in the following documents:

• Main text
• fsurg-09-935048.pdf

View BVdb publication page

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Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

Bmc Cancer

Kuick, Chik Hong CH; Tan, Jia Ying JY; Jasmine, Deborah D; Sumanty, Tohari T; Ng, Alvin Y J AYJ; Venkatesh, Byrrappa B; Chen, Huiyi H; Loh, Eva E; Jain, Sudhanshi S; Seow, Wan Yi WY; Ng, Eileen H Q EHQ; Lian, Derrick W Q DWQ; Soh, Shui Yen SY; Chang, Kenneth T E KTE; Chen, Zhi Xiong ZX; Loh, Amos H P AHP

Publication Date: 2022-06-30

Variant appearance in text: BRCA2: C315S; rs79483201

PubMed Link: 35768791

Variant Present in the following documents:

• 12885_2022_9800_MOESM1_ESM.pdf

View BVdb publication page

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Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: C315S

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants in unselected Korean men with prostate cancer.

Investigative And Clinical Urology

So, Min-Kyung MK; Ahn, Hyun Kyu HK; Huh, Jungwon J; Kim, Kwang Hyun KH

Publication Date: 2022-05

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 35534218

Variant Present in the following documents:

• icu-63-294-s001.xls, sheet 1

View BVdb publication page

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Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.

Cell Genomics

Casaletto, James J; Parsons, Michael M; Markello, Charles C; Iwasaki, Yusuke Y; Momozawa, Yukihide Y; Spurdle, Amanda B AB; Cline, Melissa M

Publication Date: 2022-03-09

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 35373174

Variant Present in the following documents:

• nihms-1787799.pdf

View BVdb publication page

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The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.

International Journal Of General Medicine

Luo, Yu Y; Wu, Heming H; Huang, Qingyan Q; Rao, Hui H; Yu, Zhikang Z; Zhong, Zhixiong Z

Publication Date: 2022

Variant appearance in text: BRCA2: 943T>A

PubMed Link: 35300142

Variant Present in the following documents:

• Main text
• ijgm-15-2773.pdf

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: BRCA2: 943T>A; C315S; rs79483201

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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Prognostic Prediction of BRCA Mutations by 18F-FDG PET/CT SUVmax in Breast Cancer

Molecular Imaging And Radionuclide Therapy

Özdemir, Semra S; Sılan, Fatma F; Akgün, Mehmet Yılmaz MY; Aracı, Nilgün N; Çırpan, İsmail İ; Koç Öztürk, Fulya F; Özdemir, Öztürk Ö

Publication Date: 2021-10-15

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 34658299

Variant Present in the following documents:

• MIRT-30-158.pdf

View BVdb publication page

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Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: BRCA2: C315S; rs79483201

PubMed Link: 34373545

Variant Present in the following documents:

• 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications.

Cancers

Sessa, Gaetana G; Ehlén, Åsa Å; von Nicolai, Catharina C; Carreira, Aura A

Publication Date: 2021-07-23

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 34359619

Variant Present in the following documents:

• Main text
• cancers-13-03719.pdf

View BVdb publication page

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Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses.

Genes

Andreassen, Paul R PR; Seo, Joonbae J; Wiek, Constanze C; Hanenberg, Helmut H

Publication Date: 2021-07-02

Variant appearance in text: N/A

PubMed Link: 34356050

Variant Present in the following documents:

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology

Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J

Publication Date: 2021-02-05

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 33546774

Variant Present in the following documents:

• 40164_2021_200_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Production of a SCID mouse model of medulloblastoma to explore the therapeutic value of targeting tumor driver genes.

Experimental And Therapeutic Medicine

Han, Yong Y; Chen, Min M; Wang, Hangzhou H

Publication Date: 2021-02

Variant appearance in text: BRCA2: C315S

PubMed Link: 33335571

Variant Present in the following documents:

• Main text
• etm-21-02-09540.pdf

View BVdb publication page

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Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology

Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC

Publication Date: 2020-11

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 33078592

Variant Present in the following documents:

• Main text
• jgo-31-e83.pdf
• jgo-31-e83-s008.xls, sheet 1
• jgo-31-e83-s007.xls, sheet 1
• jgo-31-e83-s009.xls, sheet 1

View BVdb publication page

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Liang, Zhong Z; Hu, Weidong W; Li, Shuping S; Wei, Zhenhong Z; Zhu, Zijiang Z

Publication Date: 2020-06-24

Variant appearance in text: BRCA2: C315S

PubMed Link: 32579544

Variant Present in the following documents:

• medscimonit-26-e923926.pdf

View BVdb publication page

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic mutations in lung enteric adenocarcinoma identified using next-generation sequencing.

International Journal Of Clinical And Experimental Pathology

Lin, Li L; Zhuang, Wu W; Wang, Wenxian W; Xu, Chunwei C; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Shao, Yun Y; Tai, Yanhong Y; Chen, Yanping Y; Wu, Meijuan M; Wei, Jianguo J; Chen, Gang G

Publication Date: 2017

Variant appearance in text: BRCA2: C315S

PubMed Link: 31966835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA2: 943T>A; C315S; rs79483201

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Maintenance of pegylated liposomal doxorubicin/carboplatin in patients with advanced ovarian cancer: randomized study of an Asian Gynecologic Oncology Group.

Journal Of Gynecologic Oncology

Lai, Chyong Huey CH; Vallikad, Elizabeth E; Lin, Hao H; Yang, Lan Yan LY; Jung, Shih Ming SM; Liu, Hsueh Erh HE; Ou, Yu Che YC; Chou, Hung Hsueh HH; Lin, Cheng Tao CT; Huang, Huei Jean HJ; Huang, Kuan Gen KG; Qiu, Jiantai J; Hung, Yao Ching YC; Wu, Tzu I TI; Chang, Wei Yang WY; Tan, Kien Thiam KT; Lin, Chiao Yun CY; Chao, Angel A; Chang, Chee Jen CJ

Publication Date: 2020-01

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 31788995

Variant Present in the following documents:

• jgo-31-e5-s004.xls, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Human Mutation

Parsons, Michael T MT; Tudini, Emma E; Li, Hongyan H; Hahnen, Eric E; Wappenschmidt, Barbara B; Feliubadaló, Lidia L; Aalfs, Cora M CM; Agata, Simona S; Aittomäki, Kristiina K; Alducci, Elisa E; Alonso-Cerezo, María Concepción MC; Arnold, Norbert N; Auber, Bernd B; Austin, Rachel R; Azzollini, Jacopo J; Balmaña, Judith J; Barbieri, Elena E; Bartram, Claus R CR; Blanco, Ana A; Blümcke, Britta B; Bonache, Sandra S; Bonanni, Bernardo B; Borg, Åke Å; Bortesi, Beatrice B; Brunet, Joan J; Bruzzone, Carla C; Bucksch, Karolin K; Cagnoli, Giulia G; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Calvello, Mariarosaria M; Capone, Gabriele L GL; Caputo, Sandrine M SM; Carnevali, Ileana I; Carrasco, Estela E; Caux-Moncoutier, Virginie V; Cavalli, Pietro P; Cini, Giulia G; Clarke, Edward M EM; Concolino, Paola P; Cops, Elisa J EJ; Cortesi, Laura L; Couch, Fergus J FJ; Darder, Esther E; de la Hoya, Miguel M; Dean, Michael M; Debatin, Irmgard I; Del Valle, Jesús J; Delnatte, Capucine C; Derive, Nicolas N; Diez, Orland O; Ditsch, Nina N; Domchek, Susan M SM; Dutrannoy, Véronique V; Eccles, Diana M DM; Ehrencrona, Hans H; Enders, Ute U; Evans, D Gareth DG; Farra, Chantal C; Faust, Ulrike U; Felbor, Ute U; Feroce, Irene I; Fine, Miriam M; Foulkes, William D WD; Galvao, Henrique C R HCR; Gambino, Gaetana G; Gehrig, Andrea A; Gensini, Francesca F; Gerdes, Anne-Marie AM; Germani, Aldo A; Giesecke, Jutta J; Gismondi, Viviana V; Gómez, Carolina C; Gómez Garcia, Encarna B EB; González, Sara S; Grau, Elia E; Grill, Sabine S; Gross, Eva E; Guerrieri-Gonzaga, Aliana A; Guillaud-Bataille, Marine M; Gutiérrez-Enríquez, Sara S; Haaf, Thomas T; Hackmann, Karl K; Hansen, Thomas V O TVO; Harris, Marion M; Hauke, Jan J; Heinrich, Tilman T; Hellebrand, Heide H; Herold, Karen N KN; Honisch, Ellen E; Horvath, Judit J; Houdayer, Claude C; Hübbel, Verena V; Iglesias, Silvia S; Izquierdo, Angel A; James, Paul A PA; Janssen, Linda A M LAM; Jeschke, Udo U; Kaulfuß, Silke S; Keupp, Katharina K; Kiechle, Marion M; Kölbl, Alexandra A; Krieger, Sophie S; Kruse, Torben A TA; Kvist, Anders A; Lalloo, Fiona F; Larsen, Mirjam M; Lattimore, Vanessa L VL; Lautrup, Charlotte C; Ledig, Susanne S; Leinert, Elena E; Lewis, Alexandra L AL; Lim, Joanna J; Loeffler, Markus M; López-Fernández, Adrià A; Lucci-Cordisco, Emanuela E; Maass, Nicolai N; Manoukian, Siranoush S; Marabelli, Monica M; Matricardi, Laura L; Meindl, Alfons A; Michelli, Rodrigo D RD; Moghadasi, Setareh S; Moles-Fernández, Alejandro A; Montagna, Marco M; Montalban, Gemma G; Monteiro, Alvaro N AN; Montes, Eva E; Mori, Luigi L; Moserle, Lidia L; Müller, Clemens R CR; Mundhenke, Christoph C; Naldi, Nadia N; Nathanson, Katherine L KL; Navarro, Matilde M; Nevanlinna, Heli H; Nichols, Cassandra B CB; Niederacher, Dieter D; Nielsen, Henriette R HR; Ong, Kai-Ren KR; Pachter, Nicholas N; Palmero, Edenir I EI; Papi, Laura L; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Perez-Segura, Pedro P; Pfeifer, Katharina K; Pineda, Marta M; Pohl-Rescigno, Esther E; Poplawski, Nicola K NK; Porfirio, Berardino B; Quante, Anne S AS; Ramser, Juliane J; Reis, Rui M RM; Revillion, Françoise F; Rhiem, Kerstin K; Riboli, Barbara B; Ritter, Julia J; Rivera, Daniela D; Rofes, Paula P; Rump, Andreas A; Salinas, Monica M; Sánchez de Abajo, Ana María AM; Schmidt, Gunnar G; Schoenwiese, Ulrike U; Seggewiß, Jochen J; Solanes, Ares A; Steinemann, Doris D; Stiller, Mathias M; Stoppa-Lyonnet, Dominique D; Sullivan, Kelly J KJ; Susman, Rachel R; Sutter, Christian C; Tavtigian, Sean V SV; Teo, Soo H SH; Teulé, Alex A; Thomassen, Mads M; Tibiletti, Maria Grazia MG; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda E AE; Tornero, Eva E; Törngren, Therese T; Torres-Esquius, Sara S; Toss, Angela A; Trainer, Alison H AH; Tucker, Katherine M KM; van Asperen, Christi J CJ; van Mackelenbergh, Marion T MT; Varesco, Liliana L; Vargas-Parra, Gardenia G; Varon, Raymonda R; Vega, Ana A; Velasco, Ángela Á; Vesper, Anne-Sophie AS; Viel, Alessandra A; Vreeswijk, Maaike P G MPG; Wagner, Sebastian A SA; Waha, Anke A; Walker, Logan C LC; Walters, Rhiannon J RJ; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Weichert, Wilko W; Wieland, Kerstin K; Wiesmüller, Lisa L; Witzel, Isabell I; Wöckel, Achim A; Woodward, Emma R ER; Zachariae, Silke S; Zampiga, Valentina V; Zeder-Göß, Christine C; , ; Lázaro, Conxi C; De Nicolo, Arcangela A; Radice, Paolo P; Engel, Christoph C; Schmutzler, Rita K RK; Goldgar, David E DE; Spurdle, Amanda B AB

Publication Date: 2019-09

Variant appearance in text: BRCA2: 943T>A

PubMed Link: 31131967

Variant Present in the following documents:

• HUMU-40-1557-s001.xlsx, sheet 1
• HUMU-40-1557-s001.xlsx, sheet 2

View BVdb publication page

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Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj

Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2019

Variant appearance in text: N/A

PubMed Link: 30828495

Variant Present in the following documents:

View BVdb publication page

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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Npj Genomic Medicine

Scocchia, Alicia A; Wigby, Kristen M KM; Masser-Frye, Diane D; Del Campo, Miguel M; Galarreta, Carolina I CI; Thorpe, Erin E; McEachern, Julia J; Robinson, Keisha K; Gross, Andrew A; , ; Ajay, Subramanian S SS; Rajan, Vani V; Perry, Denise L DL; Belmont, John W JW; Bentley, David R DR; Jones, Marilyn C MC; Taft, Ryan J RJ

Publication Date: 2019

Variant appearance in text: BRCA2: 943T>A

PubMed Link: 30792901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer

Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM

Publication Date: 2019-08-15

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s005.xlsx, sheet 1
• IJC-145-962-s009.xlsx, sheet 2
• IJC-145-962-s007.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: C315S

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.

The Application Of Clinical Genetics

Shah, Nidhi D ND; Shah, Parth S PS; Panchal, Yash Y YY; Katudia, Kalpesh H KH; Khatri, Nikunj B NB; Ray, Hari Shankar P HSP; Bhatiya, Upti R UR; Shah, Sandip C SC; Shah, Bhavini S BS; Rao, Mandava V MV

Publication Date: 2018

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 29785135

Variant Present in the following documents:

• Main text
• tacg-11-059.pdf

View BVdb publication page

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Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.

Cancer Research And Treatment

Eoh, Kyung Jin KJ; Kim, Ji Eun JE; Park, Hyung Seok HS; Lee, Seung-Tae ST; Park, Ji Soo JS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Jae Hoon JH; Kim, Young Tae YT; Nam, Eun Ji EJ

Publication Date: 2018-07

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 29020732

Variant Present in the following documents:

• crt-2017-220-suppl2.xlsx, sheet 1

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: BRCA2: C315S; rs79483201

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.

Cancer Research And Treatment

Hwang, Sang Mee SM; Lee, Ki Chan KC; Lee, Min Seob MS; Park, Kyoung Un KU

Publication Date: 2018-01

Variant appearance in text: BRCA2: 943T>A; Cys315Ser

PubMed Link: 28392550

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Orphanet Journal Of Rare Diseases

Chow, Yock-Ping YP; Abdul Murad, Nor Azian NA; Mohd Rani, Zamzureena Z; Khoo, Jia-Shiun JS; Chong, Pei-Sin PS; Wu, Loo-Ling LL; Jamal, Rahman R

Publication Date: 2017-02-21

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 28222800

Variant Present in the following documents:

• 13023_2017_575_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutations predisposing to diffuse large B-cell lymphoma.

Blood Cancer Journal

Leeksma, O C OC; de Miranda, N F NF; Veelken, H H

Publication Date: 2017-02-17

Variant appearance in text: BRCA2: C315S

PubMed Link: 28211887

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment

Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST

Publication Date: 2017-10

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 28111427

Variant Present in the following documents:

• crt-2016-433.pdf
• crt-2016-433-supple1.xlsx, sheet 1

View BVdb publication page

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Genomic characteristics of pancreatic squamous cell carcinoma, an investigation by using high throughput sequencing after in-solution hybrid capture.

Oncotarget

Xu, Meng-Dan MD; Liu, Shu-Ling SL; Feng, Yi-Zhong YZ; Liu, Qiang Q; Shen, Meng M; Zhi, Qiaoming Q; Liu, Zeyi Z; Gu, Dong-Mei DM; Yu, Jie J; Shou, Liu-Mei LM; Gong, Fei-Ran FR; Zhu, Qi Q; Duan, Weiming W; Chen, Kai K; Zhang, Junning J; Wu, Meng-Yao MY; Tao, Min M; Li, Wei W

Publication Date: 2017-02-28

Variant appearance in text: N/A

PubMed Link: 28099906

Variant Present in the following documents:

View BVdb publication page

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Prevalence and clinical significance of BRCA1/2 germline and somatic mutations in Taiwanese patients with ovarian cancer.

Oncotarget

Chao, Angel A; Chang, Ting-Chang TC; Lapke, Nina N; Jung, Shih-Ming SM; Chi, Peter P; Chen, Chien-Hung CH; Yang, Lan-Yan LY; Lin, Cheng-Tao CT; Huang, Huei-Jean HJ; Chou, Hung-Hsueh HH; Liou, Jui-Der JD; Chen, Shu-Jen SJ; Wang, Tzu-Hao TH; Lai, Chyong-Huey CH

Publication Date: 2016-12-20

Variant appearance in text: BRCA2: 943T>A; C315S

PubMed Link: 27907908

Variant Present in the following documents:

• oncotarget-07-85529-s001.pdf

View BVdb publication page

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Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients.

Cancer Research And Treatment

Yoon, Kyong-Ah KA; Park, Boyoung B; Lee, Byung Il BI; Yang, Moon Jung MJ; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2017-07

Variant appearance in text: BRCA2: 943T>A; Cys315Ser; rs79483201

PubMed Link: 27658390

Variant Present in the following documents:

• Main text
• crt-2016-292.pdf

View BVdb publication page

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A second DNA binding site in human BRCA2 promotes homologous recombination.

Nature Communications

von Nicolai, Catharina C; Ehlén, Åsa Å; Martin, Charlotte C; Zhang, Xiaodong X; Carreira, Aura A

Publication Date: 2016-09-15

Variant appearance in text: N/A

PubMed Link: 27628236

Variant Present in the following documents:

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: N/A

PubMed Link: 26689913

Variant Present in the following documents:

View BVdb publication page

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