Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: FGFR3: N294N

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: FGFR3: N294N

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: FGFR3: N294N

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: FGFR3: 882T>C; Asn294=; rs2234909

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: FGFR3: 882T>C; N294N; rs2234909

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: FGFR3: 882T>C; N294N; rs2234909

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Development of a precision medicine pipeline to identify personalized treatments for colorectal cancer.

Bmc Cancer

Altunel, Erdem E; Roghani, Roham S RS; Chen, Kai-Yuan KY; Kim, So Young SY; McCall, Shannon S; Ware, Kathryn E KE; Shen, Xiling X; Somarelli, Jason A JA; Hsu, David S DS

Publication Date: 2020-06-24

Variant appearance in text: FGFR3: N294N

PubMed Link: 32580713

Variant Present in the following documents:

• 12885_2020_7090_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: FGFR3: 882T>C; Asn294=; rs2234909

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: FGFR3: 882T>C

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2234909

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2234909

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2234909

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Apert's syndrome: Study by whole exome sequencing.

Genes & Diseases

Munshi, Anjana A; Khetarpal, Preeti P; Das, Satrupa S; Rao, Venkateshwar V; Valecha, Monica M; Bansal, Manita M; Kumar, Roshan R

Publication Date: 2018-06

Variant appearance in text: FGFR3: Asn294Asn; rs2234909

PubMed Link: 30258940

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

American Journal Of Human Genetics

Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, Michał M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C

Publication Date: 2017-08-03

Variant appearance in text: rs2234909

PubMed Link: 28757201

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Genomic landscape of high-grade meningiomas.

Npj Genomic Medicine

Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R

Publication Date: 2017

Variant appearance in text: FGFR3: 882T>C; N294N; rs2234909

PubMed Link: 28713588

Variant Present in the following documents:

• 41525_2017_14_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

View BVdb publication page

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Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.

Plos One

Dan, Shan S; Yuan, Yuan Y; Wang, Yaoshen Y; Chen, Chao C; Gao, Changxin C; Yu, Song S; Liu, Yan Y; Song, Wei W; Asan, ; Zhu, Hongmei H; Yang, Ling L; Deng, Hongmei H; Su, Yue Y; Yi, Xin X

Publication Date: 2016

Variant appearance in text: FGFR3: 882T>C; N294N; rs2234909

PubMed Link: 27433940

Variant Present in the following documents:

• pone.0159355.s013.xlsx, sheet 4

View BVdb publication page

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Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology

Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL

Publication Date: 2016-06

Variant appearance in text: FGFR3: 882T>C

PubMed Link: 27284491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: FGFR3: 882T>C; rs2234909

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 2

View BVdb publication page

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Association of FGFR3 and FGFR4 gene polymorphisms with breast cancer in Chinese women of Heilongjiang province.

Oncotarget

Jiang, Yongdong Y; Sun, Shanshan S; Wei, Wei W; Ren, Yanlv Y; Liu, Jing J; Pang, Da D

Publication Date: 2015-10-20

Variant appearance in text: rs2234909

PubMed Link: 26431494

Variant Present in the following documents:

• Main text
• oncotarget-06-34023.pdf

View BVdb publication page

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Comprehensive analysis of targetable oncogenic mutations in chinese cervical cancers.

Oncotarget

Xiang, Libing L; Li, Jiajia J; Jiang, Wei W; Shen, Xuxia X; Yang, Wentao W; Wu, Xiaohua X; Yang, Huijuan H

Publication Date: 2015-03-10

Variant appearance in text: FGFR3: N294N

PubMed Link: 25669975

Variant Present in the following documents:

• oncotarget-06-4968-s003.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.

British Journal Of Cancer

Agarwal, D D; Pineda, S S; Michailidou, K K; Herranz, J J; Pita, G G; Moreno, L T LT; Alonso, M R MR; Dennis, J J; Wang, Q Q; Bolla, M K MK; Meyer, K B KB; Menéndez-Rodríguez, P P; Hardisson, D D; Mendiola, M M; González-Neira, A A; Lindblom, A A; Margolin, S S; Swerdlow, A A; Ashworth, A A; Orr, N N; Jones, M M; Matsuo, K K; Ito, H H; Iwata, H H; Kondo, N N; , ; , ; Hartman, M M; Hui, M M; Lim, W Y WY; Iau, P T -C PT; Sawyer, E E; Tomlinson, I I; Kerin, M M; Miller, N N; Kang, D D; Choi, J -Y J-; Park, S K SK; Noh, D -Y D-; Hopper, J L JL; Schmidt, D F DF; Makalic, E E; Southey, M C MC; Teo, S H SH; Yip, C H CH; Sivanandan, K K; Tay, W -T W-; Brauch, H H; Brüning, T T; Hamann, U U; , ; Dunning, A M AM; Shah, M M; Andrulis, I L IL; Knight, J A JA; Glendon, G G; Tchatchou, S S; Schmidt, M K MK; Broeks, A A; Rosenberg, E H EH; van't Veer, L J LJ; Fasching, P A PA; Renner, S P SP; Ekici, A B AB; Beckmann, M W MW; Shen, C -Y C-; Hsiung, C -N C-; Yu, J -C J-; Hou, M -F M-; Blot, W W; Cai, Q Q; Wu, A H AH; Tseng, C -C C-; Van Den Berg, D D; Stram, D O DO; Cox, A A; Brock, I W IW; Reed, M W R MW; Muir, K K; Lophatananon, A A; Stewart-Brown, S S; Siriwanarangsan, P P; Zheng, W W; Deming-Halverson, S S; Shrubsole, M J MJ; Long, J J; Shu, X -O X-; Lu, W W; Gao, Y -T Y-; Zhang, B B; Radice, P P; Peterlongo, P P; Manoukian, S S; Mariette, F F; Sangrajrang, S S; McKay, J J; Couch, F J FJ; Toland, A E AE; , ; Yannoukakos, D D; Fletcher, O O; Johnson, N N; dos Santos Silva, I I; Peto, J J; Marme, F F; Burwinkel, B B; Guénel, P P; Truong, T T; Sanchez, M M; Mulot, C C; Bojesen, S E SE; Nordestgaard, B G BG; Flyer, H H; Brenner, H H; Dieffenbach, A K AK; Arndt, V V; Stegmaier, C C; Mannermaa, A A; Kataja, V V; Kosma, V -M V-; Hartikainen, J M JM; Lambrechts, D D; Yesilyurt, B T BT; Floris, G G; Leunen, K K; Chang-Claude, J J; Rudolph, A A; Seibold, P P; Flesch-Janys, D D; Wang, X X; Olson, J E JE; Vachon, C C; Purrington, K K; Giles, G G GG; Severi, G G; Baglietto, L L; Haiman, C A CA; Henderson, B E BE; Schumacher, F F; Marchand, L Le LL; Simard, J J; Dumont, M M; Goldberg, M S MS; Labréche, F F; Winqvist, R R; Pylkäs, K K; Jukkola-Vuorinen, A A; Grip, M M; Devilee, P P; Tollenaar, R A E M RA; Seynaeve, C C; García-Closas, M M; Chanock, S J SJ; Lissowska, J J; Figueroa, J D JD; Czene, K K; Eriksson, M M; Humphreys, K K; Darabi, H H; Hooning, M J MJ; Kriege, M M; Collée, J M JM; Tilanus-Linthorst, M M; Li, J J; Jakubowska, A A; Lubinski, J J; Jaworska-Bieniek, K K; Durda, K K; Nevanlinna, H H; Muranen, T A TA; Aittomäki, K K; Blomqvist, C C; Bogdanova, N N; Dörk, T T; Hall, P P; Chenevix-Trench, G G; Easton, D F DF; Pharroah, P D P PD; Arias-Perez, J I JI; Zamora, P P; Benítez, J J; Milne, R L RL

Publication Date: 2014-02-18

Variant appearance in text: rs2234909

PubMed Link: 24548884

Variant Present in the following documents:

• Main text
• bjc2013769a.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: FGFR3: N294N; rs2234909

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Experiences with array-based sequence capture; toward clinical applications.

European Journal Of Human Genetics : Ejhg

Almomani, Rowida R; van der Heijden, Jaap J; Ariyurek, Yavuz Y; Lai, Yuching Y; Bakker, Egbert E; van Galen, Michiel M; Breuning, Martijn H MH; den Dunnen, Johan T JT

Publication Date: 2011-01

Variant appearance in text: rs2234909

PubMed Link: 21102627

Variant Present in the following documents:

View BVdb publication page

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