Publications:

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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: TP53: P72P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

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: TP53: P72P

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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Double-layer omics analysis of castration- and X-ray-resistant prostate cancer cells.

Journal Of Radiation Research

Iwanaga, Mototaro M; Kawamura, Hidemasa H; Kubo, Nobuteru N; Mizukami, Tatsuji T; Oike, Takahiro T; Sato, Hiro H; Miyazawa, Yoshiyuki Y; Sekine, Yoshitaka Y; Kawabata-Iwakawa, Reika R; Nishiyama, Masahiko M; Ohno, Tatsuya T; Nakano, Takashi T

Publication Date: 2022-07-19

Variant appearance in text: rs56275308

PubMed Link: 35589101

Variant Present in the following documents:

• s1_table_rrac022.xlsx, sheet 1

View BVdb publication page

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Establishment of patient-derived organoids and a characterization-based drug discovery platform for treatment of pancreatic cancer.

Bmc Cancer

Watanabe, Sadanori S; Yogo, Akitada A; Otsubo, Tsuguteru T; Umehara, Hiroki H; Oishi, Jun J; Kodo, Toru T; Masui, Toshihiko T; Takaishi, Shigeo S; Seno, Hiroshi H; Uemoto, Shinji S; Hatano, Etsuro E

Publication Date: 2022-05-03

Variant appearance in text: rs56275308

PubMed Link: 35505283

Variant Present in the following documents:

• 12885_2022_9619_MOESM1_ESM.xlsx, sheet 9
• 12885_2022_9619_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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The cell cycle regulatory gene polymorphisms TP53 (rs1042522) and MDM2 (rs2279744) in lung cancer: a meta-analysis.

Vavilovskii Zhurnal Genetiki I Selektsii

Bulgakova, O O; Kussainova, A A; Bersimbaev, R R

Publication Date: 2020-11

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 33959694

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs56275308

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs56275308

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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The genetic association study of TP53 polymorphisms in Saudi obese patients.

Saudi Journal Of Biological Sciences

Sabir, Jamal S M JSM; El Omri, Abdelfatteh A; Shaik, Noor A NA; Banaganapalli, Babajan B; Hajrah, Nahid H NH; Zrelli, Houda H; Arfaoui, Leila L; Awan, Zuhier A ZA; Shaikh Omar, Abdulkader M AM; Mohammed, Arif A; Alharbi, Mona G MG; Alhebshi, Alawiah M AM; Jansen, Robert K RK; Khan, Muhummadh M

Publication Date: 2019-11

Variant appearance in text: p53: Pro72Pro

PubMed Link: 31762593

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: TP53: P72P

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: rs56275308

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.

Frontiers In Oncology

Zhunussova, Gulnur G; Afonin, Georgiy G; Abdikerim, Saltanat S; Jumanov, Abai A; Perfilyeva, Anastassiya A; Kaidarova, Dilyara D; Djansugurova, Leyla L

Publication Date: 2019

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 31428572

Variant Present in the following documents:

• Main text
• fonc-09-00673.pdf

View BVdb publication page

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ТР53 Codon 72 Polymorphism and Human Papilloma Virus-Associated Cervical Cancer in Kyrgyz Women

Asian Pacific Journal Of Cancer Prevention : Apjcp

Isakova, Jainagul J; Vinnikov, Denis D; Bukuev, Nurbek N; Talaibekova, Elnura E; Aldasheva, Nazira N

Publication Date: 2019-04-29

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 31030474

Variant Present in the following documents:

• Main text
• APJCP-20-1057.pdf

View BVdb publication page

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Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications

Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL

Publication Date: 2019-04-16

Variant appearance in text: rs56275308

PubMed Link: 30992440

Variant Present in the following documents:

• 41467_2019_9762_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 216C>T; Pro72=

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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RNA-Seq reveals the existence of a CDKN1C-E2F1-TP53 axis that is altered in human T-cell lymphoblastic lymphomas.

Bmc Cancer

López-Nieva, Pilar P; Fernández-Navarro, Pablo P; Vaquero-Lorenzo, Concepción C; Villa-Morales, María M; Graña-Castro, Osvaldo O; Cobos-Fernández, María Ángeles MÁ; López-Lorenzo, José Luis JL; Llamas, Pilar P; González-Sanchez, Laura L; Sastre, Isabel I; Pollan, Marina M; Malumbres, Marcos M; Santos, Javier J; Fernández-Piqueras, José J

Publication Date: 2018-04-16

Variant appearance in text: rs56275308

PubMed Link: 29661169

Variant Present in the following documents:

• 12885_2018_4304_MOESM7_ESM.pdf

View BVdb publication page

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Individual susceptibility to arsenic-induced diseases: the role of host genetics, nutritional status, and the gut microbiome.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Chi, Liang L; Gao, Bei B; Tu, Pengcheng P; Liu, Chih-Wei CW; Xue, Jingchuan J; Lai, Yunjia Y; Ru, Hongyu H; Lu, Kun K

Publication Date: 2018-02

Variant appearance in text: p53: Pro72Pro

PubMed Link: 29429126

Variant Present in the following documents:

• Main text

View BVdb publication page

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Individual and combined effect of TP53, MDM2, MDM4, MTHFR, CCR5, and CASP8 gene polymorphisms in lung cancer.

Oncotarget

Stumbryte, Ausra A; Gudleviciene, Zivile Z; Kundrotas, Gabrielis G; Dabkeviciene, Daiva D; Kunickaite, Agne A; Cicenas, Saulius S

Publication Date: 2018-01-09

Variant appearance in text: p53: Pro72Pro

PubMed Link: 29423041

Variant Present in the following documents:

• Main text
• oncotarget-09-3214.pdf

View BVdb publication page

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TP53 R72P Polymorphism and Susceptibility to Human Papillomavirus Infection Among Women With Human Immunodeficiency Virus in Morocco: A Case-control Study.

Journal Of Cancer Prevention

Lahsen, Ahd Oulad AO; Baba, Hanâ H; Bensghir, Rajaa R; Fayssel, Naouar N; Sodqi, Mustapha M; Marih, Latifa L; Nadifi, Sellama S; Wakrim, Lahcen L; El Filali, Kamal Marhoum KM; Ezzikouri, Sayeh S

Publication Date: 2017-12

Variant appearance in text: TP53: P72P

PubMed Link: 29302583

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females.

Bmc Cancer

Isakova, Jainagul J; Talaibekova, Elnura E; Aldasheva, Nazira N; Vinnikov, Denis D; Aldashev, Almaz A

Publication Date: 2017-11-13

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 29132330

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3762.pdf

View BVdb publication page

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Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Endocrine Pathology

Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M

Publication Date: 2017-09

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 28647780

Variant Present in the following documents:

• Main text
• 12022_2017_Article_9487.pdf

View BVdb publication page

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Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies.

British Journal Of Cancer

Alvi, Muhammad A MA; Loughrey, Maurice B MB; Dunne, Philip P; McQuaid, Stephen S; Turkington, Richard R; Fuchs, Marc-Aurel MA; McGready, Claire C; Bingham, Victoria V; Pang, Brendan B; Moore, Wendy W; Maxwell, Perry P; Lawler, Mark M; James, Jacqueline A JA; Murray, Graeme I GI; Wilson, Richard H RH; Salto-Tellez, Manuel M

Publication Date: 2017-07-11

Variant appearance in text: rs56275308

PubMed Link: 28595259

Variant Present in the following documents:

• bjc2017168x11.xlsx, 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: TP53: 216C>T; Pro72=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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TP53 alterations in primary and secondary Sézary syndrome: A diagnostic tool for the assessment of malignancy in patients with erythroderma.

Plos One

Gros, Audrey A; Laharanne, Elodie E; Vergier, Marie M; Prochazkova-Carlotti, Martina M; Pham-Ledard, Anne A; Bandres, Thomas T; Poglio, Sandrine S; Berhouet, Sabine S; Vergier, Béatrice B; Vial, Jean-Philippe JP; Chevret, Edith E; Beylot-Barry, Marie M; Merlio, Jean-Philippe JP

Publication Date: 2017

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 28301507

Variant Present in the following documents:

• Main text
• pone.0173171.pdf

View BVdb publication page

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Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice

Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L

Publication Date: 2014

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 25780794

Variant Present in the following documents:

• Main text
• gcsp-2014-054.pdf

View BVdb publication page

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Uncommon non-oncogenic HPV genotypes, TP53 and MDM2 genes polymorphisms in HIV-infected women in Southern Brazil.

The Brazilian Journal Of Infectious Diseases : An Official Publication Of The Brazilian Society Of Infectious Diseases

Entiauspe, Ludmila Gonçalves LG; Seixas, Fabiana Kömmling FK; Nunes, Emily Montosa EM; Rodrigues, Fernanda Martins FM; Dellagostin, Odir A OA; Collares, Tiago T; da Silveira, Mariângela Freitas MF

Publication Date: 2014

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 25181402

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics

Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T

Publication Date: 2014-09

Variant appearance in text: rs56275308

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

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"P53 codon 72 single base substitution in viral hepatitis C and hepatocarcinoma incidences".

Indian Journal Of Clinical Biochemistry : Ijcb

Eskander, Emad F EF; Abd-Rabou, Ahmed A AA; Yahya, Shaymaa M M SM; El Sherbini, Ashraf A; Mohamed, Mervat S MS; Shaker, Olfat G OG

Publication Date: 2014-01

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 24478542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Negative effect of P72 polymorphism on p53 gene in IVF outcome in patients with repeated implantation failure and pregnancy loss.

Journal Of Assisted Reproduction And Genetics

Lledo, Belén B; Turienzo, Azahara A; Ortiz, Jose A JA; Morales, Ruth R; Ten, Jorge J; Llácer, Joaquin J; Bernabeu, Rafael R

Publication Date: 2014-02

Variant appearance in text: p53: P72P

PubMed Link: 24327010

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prognostic assessment of apoptotic gene polymorphisms in non-small cell lung cancer in Chinese.

Journal Of Biomedical Research

Cao, Songyu S; Wang, Cheng C; Huang, Xinen X; Dai, Juncheng J; Hu, Lingmin L; Liu, Yao Y; Chen, Jiaping J; Ma, Hongxia H; Jin, Guangfu G; Hu, Zhibin Z; Xu, Lin L; Shen, Hongbing H

Publication Date: 2013-05

Variant appearance in text: p53: Pro72Pro

PubMed Link: 23720679

Variant Present in the following documents:

• Main text
• jbr-27-03-231.pdf

View BVdb publication page

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The determination of genetic markers of age-related cancer pathologies in populations from Kazakhstan.

Frontiers In Genetics

Djansugurova, Leyla B LB; Perfilyeva, Anastassiya V AV; Zhunusova, Gulnur S GS; Djantaeva, Kira B KB; Iksan, Olzhas A OA; Khussainova, Elmira M EM

Publication Date: 2013

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 23675381

Variant Present in the following documents:

• Main text

View BVdb publication page

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[Research progress of lung cancer on single nuleotide polymorphism].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer

Hua, Feng F; Zhou, Qinghua Q

Publication Date: 2011-02

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 21342648

Variant Present in the following documents:

• Main text
• zgfazz-14-2-156.pdf

View BVdb publication page

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An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers.

British Journal Of Cancer

Osorio, A A; Pollán, M M; Pita, G G; Schmutzler, R K RK; Versmold, B B; Engel, C C; Meindl, A A; Arnold, N N; Preisler-Adams, S S; Niederacher, D D; Hofmann, W W; Gadzicki, D D; Jakubowska, A A; Hamann, U U; Lubinski, J J; Toloczko-Grabarek, A A; Cybulski, C C; Debniak, T T; Llort, G G; Yannoukakos, D D; Díez, O O; Peissel, B B; Peterlongo, P P; Radice, P P; Heikkinen, T T; Nevanlinna, H H; Mai, P L PL; Loud, J T JT; McGuffog, L L; Antoniou, A C AC; Benitez, J J; ,

Publication Date: 2008-09-16

Variant appearance in text: p53: Pro72Pro

PubMed Link: 18781154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer.

Bmc Cancer

Costa, Sandra S; Pinto, Daniela D; Pereira, Deolinda D; Rodrigues, Helena H; Cameselle-Teijeiro, Jorge J; Medeiros, Rui R; Schmitt, Fernando F

Publication Date: 2008-01-29

Variant appearance in text: TP53: Pro72Pro

PubMed Link: 18230179

Variant Present in the following documents:

• Main text
• 1471-2407-8-32.pdf

View BVdb publication page

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