Publications:

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Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Vasudev, Naveen S NS; Scelo, Ghislaine G; Glennon, Kate I KI; Wilson, Michelle M; Letourneau, Louis L; Eveleigh, Robert R; Nourbehesht, Nazanin N; Arseneault, Madeleine M; Paccard, Antoine A; Egevad, Lars L; Viksna, Juris J; Celms, Edgars E; Jackson, Sharon M SM; Abedi-Ardekani, Behnoush B; Warren, Anne Y AY; Selby, Peter J PJ; Trainor, Sebastian S; Kimuli, Michael M; Cartledge, Jon J; Soomro, Naeem N; Adeyoju, Adebanji A; Patel, Poulam M PM; Wozniak, Magdalena B MB; Holcatova, Ivana I; Brisuda, Antonin A; Janout, Vladimir V; Chanudet, Estelle E; Zaridze, David D; Moukeria, Anush A; Shangina, Oxana O; Foretova, Lenka L; Navratilova, Marie M; Mates, Dana D; Jinga, Viorel V; Bogdanovic, Ljiljana L; Kovacevic, Bozidar B; Cambon-Thomsen, Anne A; Bourque, Guillaume G; Brazma, Alvis A; Tost, Jörg J; Brennan, Paul P; Lathrop, Mark M; Riazalhosseini, Yasser Y; Banks, Rosamonde E RE

Publication Date: 2023-02-23

Variant appearance in text: VHL: 239G>A; Ser80Asn; rs5030805

PubMed Link: 36815791

Variant Present in the following documents:

• ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: VHL: S80N

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Genes

Hudler, Petra P; Urbancic, Mojca M

Publication Date: 2022-02-17

Variant appearance in text: VHL: 239G>A; S80N

PubMed Link: 35205407

Variant Present in the following documents:

• genes-13-00362.pdf

View BVdb publication page

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Characteristics of Clear Cell Papillary Renal Cell Carcinoma (ccpRCC).

International Journal Of Molecular Sciences

Rysz, Jacek J; Franczyk, Beata B; Ławiński, Janusz J; Gluba-Brzózka, Anna A

Publication Date: 2021-12-23

Variant appearance in text: VHL: S80N

PubMed Link: 35008576

Variant Present in the following documents:

• Main text
• ijms-23-00151.pdf

View BVdb publication page

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Characteristics of Clear Cell Papillary Renal Cell Carcinoma (ccpRCC).

International Journal Of Molecular Sciences

Rysz, Jacek J; Franczyk, Beata B; Ławiński, Janusz J; Gluba-Brzózka, Anna A

Publication Date: 2021-12-23

Variant appearance in text: VHL: S80N

PubMed Link: 35008576

Variant Present in the following documents:

• Main text
• ijms-23-00151.pdf

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: VHL: 239G>A; S80N; rs5030805

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: VHL: 239G>A; S80N; rs5030805

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Biomed Research International

Meng, Hui H; Jiang, Xuewen X; Cui, Jianfeng J; Yin, Gang G; Shi, Benkang B; Liu, Qi Q; Xuan, He H; Wang, Yu Y

Publication Date: 2020

Variant appearance in text: VHL: 239G>A; Ser80Asn

PubMed Link: 33062672

Variant Present in the following documents:

• 2495157.f1.xlsx, sheet 5

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: VHL: 239G>A; S80N

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Journal For Immunotherapy Of Cancer

Labriola, Matthew Kyle MK; Zhu, Jason J; Gupta, Rajan T RT; McCall, Shannon S; Jackson, Jennifer J; Kong, Eric F EF; White, James R JR; Cerqueira, Gustavo G; Gerding, Kelly K; Simmons, John K JK; George, Daniel D; Zhang, Tian T

Publication Date: 2020-03

Variant appearance in text: VHL: S80N

PubMed Link: 32221016

Variant Present in the following documents:

• jitc-2019-000319supp001.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: VHL: Ser80Asn

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: VHL: S80N

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic mutations in renal cell carcinomas from Chinese patients revealed by whole exome sequencing.

Cancer Cell International

Wang, Jie J; Xi, Zhijun Z; Xi, Jianzhong J; Zhang, Hanshuo H; Li, Juan J; Xia, Yuchao Y; Yi, Yuanxue Y

Publication Date: 2018

Variant appearance in text: VHL: S80N

PubMed Link: 30349421

Variant Present in the following documents:

• Main text
• 12935_2018_Article_661.pdf

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: rs5030805

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The importance of regulatory ubiquitination in cancer and metastasis.

Cell Cycle (Georgetown, Tex.)

Gallo, L H LH; Ko, J J; Donoghue, D J DJ

Publication Date: 2017-04-03

Variant appearance in text: VHL: S80N

PubMed Link: 28166483

Variant Present in the following documents:

• Main text
• kccy-16-07-1288326.pdf

View BVdb publication page

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Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach.

Oncotarget

Fiorentino, Michelangelo M; Gruppioni, Elisa E; Massari, Francesco F; Giunchi, Francesca F; Altimari, Annalisa A; Ciccarese, Chiara C; Bimbatti, Davide D; Scarpa, Aldo A; Iacovelli, Roberto R; Porta, Camillo C; Virinder, Sarhadi S; Tortora, Giampaolo G; Artibani, Walter W; Schiavina, Riccardo R; Ardizzoni, Andrea A; Brunelli, Matteo M; Knuutila, Sakari S; Martignoni, Guido G

Publication Date: 2017-01-31

Variant appearance in text: VHL: 239G>A

PubMed Link: 27741505

Variant Present in the following documents:

• Main text
• oncotarget-08-7328.pdf

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: VHL: S80N

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: VHL: S80N; rs5030805

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Plos One

Ricketts, Christopher J CJ; Linehan, W Marston WM

Publication Date: 2015

Variant appearance in text: VHL: S80N

PubMed Link: 26484545

Variant Present in the following documents:

• pone.0140257.s003.xlsx, sheet 1

View BVdb publication page

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Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget

Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J

Publication Date: 2015-09-22

Variant appearance in text: rs5030805

PubMed Link: 26296973

Variant Present in the following documents:

• oncotarget-06-25619-s004.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: VHL: S80N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Human Molecular Genetics

Gossage, Lucy L; Pires, Douglas E V DE; Olivera-Nappa, Álvaro Á; Asenjo, Juan J; Bycroft, Mark M; Blundell, Tom L TL; Eisen, Tim T

Publication Date: 2014-11-15

Variant appearance in text: VHL: S80N

PubMed Link: 24969085

Variant Present in the following documents:

• Main text
• supp_ddu321_ddu321supp_table.xlsx, sheet 2
• supp_ddu321_ddu321supp_table.xlsx, sheet 3
• ddu321.pdf

View BVdb publication page

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De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.

Journal Of Neurosurgery

Ding, Xinghua X; Zhang, Chao C; Frerich, Jason M JM; Germanwala, Anand A; Yang, Chunzhang C; Lonser, Russell R RR; Mao, Ying Y; Zhuang, Zhengping Z; Zhang, Mingguang M

Publication Date: 2014-08

Variant appearance in text: VHL: S80N

PubMed Link: 24678776

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.

Indian Journal Of Human Genetics

Kumar, Pasupuleti Santhosh PS; Venkatesh, Katari K; Srikanth, Lokanathan L; Sarma, Potukuchi Venkata Gurunadha Krishna PV; Reddy, Akkamgari Ramprasad AR; Subramanian, Srinivasan S; Phaneendra, Bobbidi Venkata BV

Publication Date: 2013-07

Variant appearance in text: VHL: 239G>A

PubMed Link: 24339559

Variant Present in the following documents:

• Main text
• IJHG-19-373.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: VHL: S80N

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: VHL: S80N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

Hereditary Cancer In Clinical Practice

Cybulski, Cezary C; Matyjasik, Joanna J; Soroka, Marianna M; Szymaś, Janusz J; Górski, Bohdan B; Debniak, Tadeusz T; Jakubowska, Anna A; Bernaczyk, Andrzej A; Zimnoch, Lech L; Bierzyńska-Macyszyn, Grazyna G; Trojanowski, Tomasz T; Wierzba-Bobrowicz, Teresa T; Prudlak, Edmund E; Markowska-Wojciechowska, Alicja A; Nowacki, Przemysław P; Roszkiewicz, Andrzej A; Kordek, Radzisław R; Szylberg, Tadeusz T; Matyja, Ewa E; Zieliński, Krzysztof K; Woźniewicz, Bogdan B; Taraszewska, Anna A; Kozłowski, Wojciech W; Lubiński, Jan J

Publication Date: 2004-03-15

Variant appearance in text: VHL: Ser80Asn

PubMed Link: 20233476

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Nature

Dalgliesh, Gillian L GL; Furge, Kyle K; Greenman, Chris C; Chen, Lina L; Bignell, Graham G; Butler, Adam A; Davies, Helen H; Edkins, Sarah S; Hardy, Claire C; Latimer, Calli C; Teague, Jon J; Andrews, Jenny J; Barthorpe, Syd S; Beare, Dave D; Buck, Gemma G; Campbell, Peter J PJ; Forbes, Simon S; Jia, Mingming M; Jones, David D; Knott, Henry H; Kok, Chai Yin CY; Lau, King Wai KW; Leroy, Catherine C; Lin, Meng-Lay ML; McBride, David J DJ; Maddison, Mark M; Maguire, Simon S; McLay, Kirsten K; Menzies, Andrew A; Mironenko, Tatiana T; Mulderrig, Lee L; Mudie, Laura L; O'Meara, Sarah S; Pleasance, Erin E; Rajasingham, Arjunan A; Shepherd, Rebecca R; Smith, Raffaella R; Stebbings, Lucy L; Stephens, Philip P; Tang, Gurpreet G; Tarpey, Patrick S PS; Turrell, Kelly K; Dykema, Karl J KJ; Khoo, Sok Kean SK; Petillo, David D; Wondergem, Bill B; Anema, John J; Kahnoski, Richard J RJ; Teh, Bin Tean BT; Stratton, Michael R MR; Futreal, P Andrew PA

Publication Date: 2010-01-21

Variant appearance in text: VHL: 239G>A; S80N

PubMed Link: 20054297

Variant Present in the following documents:

• NIHMS28099-supplement-7.xls, sheet 1

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: VHL: S80N; rs5030805

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 1
• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.

Bmc Medical Genetics

Patocs, Attila A; Gergics, Peter P; Balogh, Katalin K; Toth, Miklos M; Fazakas, Ferenc F; Liko, Istvan I; Racz, Karoly K

Publication Date: 2008-04-16

Variant appearance in text: VHL: 239G>A; Ser80Asn

PubMed Link: 18416845

Variant Present in the following documents:

• Main text
• 1471-2350-9-29.pdf

View BVdb publication page

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