Publications:

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Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape.

Biorxiv : The Preprint Server For Biology

Ratnasinghe, Brian D BD; Haque, Neshatul N; Wagenknecht, Jessica B JB; Jensen, Davin R DR; Esparza, Guadalupe V GV; Leverence, Elise N EN; De Assuncao, Thiago Milech TM; Mathison, Angela J AJ; Lomberk, Gwen G; Smith, Brian C BC; Volkman, Brian F BF; Urrutia, Raul R; Zimmermann, Michael T MT

Publication Date: 2023-04-28

Variant appearance in text: KRAS: P34R

PubMed Link: 37207265

Variant Present in the following documents:

• media-1.pdf

View BVdb publication page

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In Silico Evaluation of the Thr58-Associated Conserved Water with KRAS Switch-II Pocket Binders.

Journal Of Chemical Information And Modeling

Leini, Renne R; Pantsar, Tatu T

Publication Date: 2023-02-28

Variant appearance in text: KRAS: P34R

PubMed Link: 36854010

Variant Present in the following documents:

• ci2c01479_si_002.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KRAS: 101C>G; Pro34Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: rs104894366

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: KRAS: 101C>G; Pro34Arg

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: KRAS: 101C>G; P34R

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Characteristics and Treatment Outcomes in Advanced-Stage Non-Small Cell Lung Cancer Patients with a KRAS G12C Mutation: A Real-World Study.

Journal Of Clinical Medicine

Illini, Oliver O; Fabikan, Hannah H; Hochmair, Maximilian Johannes MJ; Weinlinger, Christoph C; Krenbek, Dagmar D; Brcic, Luka L; Setinek, Ulrike U; Terbuch, Angelika A; Absenger, Gudrun G; Konjić, Selma S; Valipour, Arschang A

Publication Date: 2022-07-15

Variant appearance in text: KRAS: P34R

PubMed Link: 35887862

Variant Present in the following documents:

• jcm-11-04098.pdf

View BVdb publication page

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Delineating the RAS Conformational Landscape.

Cancer Research

Parker, Mitchell I MI; Meyer, Joshua E JE; Golemis, Erica A EA; Dunbrack, Roland L RL

Publication Date: 2022-07-05

Variant appearance in text: KRAS: P34R

PubMed Link: 35536216

Variant Present in the following documents:

• can-22-0804_supplementary_datasets_s1-s4_suppsds1-sds4.xlsx, sheet 1

View BVdb publication page

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The RASopathies: from pathogenetics to therapeutics.

Disease Models & Mechanisms

Hebron, Katie E KE; Hernandez, Edjay Ralph ER; Yohe, Marielle E ME

Publication Date: 2022-02-01

Variant appearance in text: KRAS: P34R

PubMed Link: 35178568

Variant Present in the following documents:

• Main text

View BVdb publication page

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Acquired somatic variants in inherited myeloid malignancies.

Leukemia

Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J

Publication Date: 2022-05

Variant appearance in text: KRAS: P34R

PubMed Link: 35140362

Variant Present in the following documents:

• 41375_2022_1515_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KRAS: P34R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Clinical and Functional Characterization of Atypical KRAS/NRAS Mutations in Metastatic Colorectal Cancer.

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

Loree, Jonathan M JM; Wang, Yucai Y; Syed, Muddassir A MA; Sorokin, Alexey V AV; Coker, Oluwadara O; Xiu, Joanne J; Weinberg, Benjamin A BA; Vanderwalde, Ari M AM; Tesfaye, Anteneh A; Raymond, Victoria M VM; Miron, Benjamin B; Tarcic, Gabi G; Zelichov, Ori O; Broaddus, Russell R RR; Ng, Patrick Kwok Shing PKS; Jeong, Kang Jin KJ; Tsang, Yiu Huen YH; Mills, Gordon B GB; Overman, Michael J MJ; Grothey, Axel A; Marshall, John L JL; Kopetz, Scott S

Publication Date: 2021-08-15

Variant appearance in text: KRAS: P34R

PubMed Link: 34117033

Variant Present in the following documents:

• Main text

View BVdb publication page

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Embryonic Expression of NrasG 12 D Leads to Embryonic Lethality and Cardiac Defects.

Frontiers In Cell And Developmental Biology

You, Xiaona X; Ryu, Myung-Jeom MJ; Cho, Eunjin E; Sang, Yanzhi Y; Damnernsawad, Alisa A; Zhou, Yun Y; Liu, Yangang Y; Zhang, Jing J; Lee, Youngsook Y

Publication Date: 2021

Variant appearance in text: KRAS: P34R

PubMed Link: 33681212

Variant Present in the following documents:

• Main text
• fcell-09-633661.pdf

View BVdb publication page

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KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice.

Jci Insight

Wong, Jasmine C JC; Perez-Mancera, Pedro A PA; Huang, Tannie Q TQ; Kim, Jangkyung J; Grego-Bessa, Joaquim J; Del Pilar Alzamora, Maria M; Kogan, Scott C SC; Sharir, Amnon A; Keefe, Susan H SH; Morales, Carolina E CE; Schanze, Denny D; Castel, Pau P; Hirose, Kentaro K; Huang, Guo N GN; Zenker, Martin M; Sheppard, Dean D; Klein, Ophir D OD; Tuveson, David A DA; Braun, Benjamin S BS; Shannon, Kevin K

Publication Date: 2020-11-05

Variant appearance in text: KRAS: P34R

PubMed Link: 32990679

Variant Present in the following documents:

• Main text
• jciinsight-5-140495-s121.pdf
• jciinsight-5-140495.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KRAS: P34R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Dunnett-Kane, V V; Burkitt-Wright, E E; Blackhall, F H FH; Malliri, A A; Evans, D G DG; Lindsay, C R CR

Publication Date: 2020-07

Variant appearance in text: KRAS: P34R

PubMed Link: 32240795

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R.

Birth Defects Research

Bera, Asim K AK; Lu, Jia J; Lu, Chunya C; Li, Lianbo L; Gondi, Sudershan S; Yan, Wei W; Nelson, Andrew A; Zhang, Goujun G; Westover, Kenneth D KD

Publication Date: 2020-06

Variant appearance in text: KRAS: P34R

PubMed Link: 32187889

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KRAS: P34R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Genome Medicine

Adashek, Jacob J JJ; Kato, Shumei S; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2020-02-17

Variant appearance in text: KRAS: P34R

PubMed Link: 32066498

Variant Present in the following documents:

• Main text
• 13073_2020_Article_714.pdf

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: KRAS: Pro34Arg

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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Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: KRAS: P34R; rs104894366

PubMed Link: 31117243

Variant Present in the following documents:

• Main text
• molecules-24-01951.pdf

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: KRAS: P34R

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KRAS: 101C>G; Pro34Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Young, Lucy C LC; Hartig, Nicole N; Boned Del Río, Isabel I; Sari, Sibel S; Ringham-Terry, Benjamin B; Wainwright, Joshua R JR; Jones, Greg G GG; McCormick, Frank F; Rodriguez-Viciana, Pablo P

Publication Date: 2018-11-06

Variant appearance in text: KRAS: P34R

PubMed Link: 30348783

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of allelic imbalance to colorectal cancer.

Nature Communications

Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA

Publication Date: 2018-09-10

Variant appearance in text: KRAS: P34R

PubMed Link: 30202008

Variant Present in the following documents:

• 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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KRAS Alleles: The Devil Is in the Detail.

Trends In Cancer

Haigis, Kevin M KM

Publication Date: 2017-10

Variant appearance in text: KRAS: P34R

PubMed Link: 28958387

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: KRAS: P34R; rs104894366

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.

Haematologica

Kanagal-Shamanna, Rashmi R; Loghavi, Sanam S; DiNardo, Courtney D CD; Medeiros, L Jeffrey LJ; Garcia-Manero, Guillermo G; Jabbour, Elias E; Routbort, Mark J MJ; Luthra, Rajyalakshmi R; Bueso-Ramos, Carlos E CE; Khoury, Joseph D JD

Publication Date: 2017-10

Variant appearance in text: KRAS: 101C>G; P34R

PubMed Link: 28659335

Variant Present in the following documents:

• 1021661.pdf

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: KRAS: 101C>G; Pro34Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: rs104894366

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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KRAS and Combined KRAS/TP53 Mutations in Locally Advanced Rectal Cancer are Independently Associated with Decreased Response to Neoadjuvant Therapy.

Annals Of Surgical Oncology

Chow, Oliver S OS; Kuk, Deborah D; Keskin, Metin M; Smith, J Joshua JJ; Camacho, Niedzica N; Pelossof, Raphael R; Chen, Chin-Tung CT; Chen, Zhenbin Z; Avila, Karin K; Weiser, Martin R MR; Berger, Michael F MF; Patil, Sujata S; Bergsland, Emily E; Garcia-Aguilar, Julio J

Publication Date: 2016-08

Variant appearance in text: KRAS: P34R

PubMed Link: 27020587

Variant Present in the following documents:

• Main text

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: KRAS: P34R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms

Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY

Publication Date: 2015-08-01

Variant appearance in text: KRAS: P34R

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: KRAS: P34R

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: KRAS: P34R

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1
• MSB-10-5-727-s14.xlsx, sheet 1

View BVdb publication page

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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: rs104894366

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

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A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.

Croatian Medical Journal

Nosan, Gregor G; Bertok, Sara S; Vesel, Samo S; Yntema, Helger G HG; Paro-Panjan, Darja D

Publication Date: 2013-12

Variant appearance in text: KRAS: Pro34Arg

PubMed Link: 24382853

Variant Present in the following documents:

• Main text
• CroatMedJ_54_0574.pdf

View BVdb publication page

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Lymphatic vessel abnormalities arising from disorders of Ras signal transduction.

Trends In Cardiovascular Medicine

Sevick-Muraca, Eva M EM; King, Philip D PD

Publication Date: 2014-04

Variant appearance in text: KRAS: P34R

PubMed Link: 24183794

Variant Present in the following documents:

• Main text

View BVdb publication page

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Negative regulation of Shh levels by Kras and Fgfr2 during hair follicle development.

Developmental Biology

Mukhopadhyay, Anandaroop A; Krishnaswami, Suguna Rani SR; Cowing-Zitron, Christopher C; Hung, Nai-Jung NJ; Reilly-Rhoten, Heather H; Burns, Julianne J; Yu, Benjamin D BD

Publication Date: 2013-01-15

Variant appearance in text: KRAS: P34R

PubMed Link: 23123965

Variant Present in the following documents:

• Main text

View BVdb publication page

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NRAS Mutations in Noonan Syndrome.

Molecular Syndromology

Denayer, E E; Peeters, H H; Sevenants, L L; Derbent, M M; Fryns, J P JP; Legius, E E

Publication Date: 2012-06

Variant appearance in text: KRAS: Pro34Arg

PubMed Link: 22855653

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

Human Mutation

Gremer, Lothar L; Merbitz-Zahradnik, Torsten T; Dvorsky, Radovan R; Cirstea, Ion C IC; Kratz, Christian Peter CP; Zenker, Martin M; Wittinghofer, Alfred A; Ahmadian, Mohammad Reza MR

Publication Date: 2011-01

Variant appearance in text: KRAS: P34R

PubMed Link: 20949621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Noonan syndrome: clinical aspects and molecular pathogenesis.

Molecular Syndromology

Tartaglia, M M; Zampino, G G; Gelb, B D BD

Publication Date: 2010-02

Variant appearance in text: KRAS: Pro34Arg

PubMed Link: 20648242

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

American Journal Of Medical Genetics. Part A

Rauen, Katherine A KA; Schoyer, Lisa L; McCormick, Frank F; Lin, Angela E AE; Allanson, Judith E JE; Stevenson, David A DA; Gripp, Karen W KW; Neri, Giovanni G; Carey, John C JC; Legius, Eric E; Tartaglia, Marco M; Schubbert, Suzanne S; Roberts, Amy E AE; Gelb, Bruce D BD; Shannon, Kevin K; Gutmann, David H DH; McMahon, Martin M; Guerra, Carmen C; Fagin, James A JA; Yu, Benjamin B; Aoki, Yoko Y; Neel, Benjamin G BG; Balmain, Allan A; Drake, Richard R RR; Nolan, Garry P GP; Zenker, Martin M; Bollag, Gideon G; Sebolt-Leopold, Judith J; Gibbs, Jackson B JB; Silva, Alcino J AJ; Patton, E Elizabeth EE; Viskochil, David H DH; Kieran, Mark W MW; Korf, Bruce R BR; Hagerman, Randi J RJ; Packer, Roger J RJ; Melese, Teri T

Publication Date: 2010-01

Variant appearance in text: KRAS: P34R

PubMed Link: 20014119

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients.

Blood

Tyner, Jeffrey W JW; Erickson, Heidi H; Deininger, Michael W N MW; Willis, Stephanie G SG; Eide, Christopher A CA; Levine, Ross L RL; Heinrich, Michael C MC; Gattermann, Norbert N; Gilliland, D Gary DG; Druker, Brian J BJ; Loriaux, Marc M MM

Publication Date: 2009-02-19

Variant appearance in text: KRAS: P34R

PubMed Link: 19075190

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biochemical and functional characterization of germ line KRAS mutations.

Molecular And Cellular Biology

Schubbert, Suzanne S; Bollag, Gideon G; Lyubynska, Natalya N; Nguyen, Hoa H; Kratz, Christian P CP; Zenker, Martin M; Niemeyer, Charlotte M CM; Molven, Anders A; Shannon, Kevin K

Publication Date: 2007-11

Variant appearance in text: KRAS: P34R

PubMed Link: 17875937

Variant Present in the following documents:

• Main text

View BVdb publication page

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An unexpected new role of mutant Ras: perturbation of human embryonic development.

Journal Of Molecular Medicine (Berlin, Germany)

Kratz, Christian P CP; Niemeyer, Charlotte M CM; Zenker, Martin M

Publication Date: 2007-03

Variant appearance in text: KRAS: P34R

PubMed Link: 17211612

Variant Present in the following documents:

• Main text
• 109_2006_Article_135.pdf

View BVdb publication page

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Journal Of Medical Genetics

Zenker, Martin M; Lehmann, Katarina K; Schulz, Anna Leana AL; Barth, Helmut H; Hansmann, Dagmar D; Koenig, Rainer R; Korinthenberg, Rudolf R; Kreiss-Nachtsheim, Martina M; Meinecke, Peter P; Morlot, Susanne S; Mundlos, Stefan S; Quante, Anne S AS; Raskin, Salmo S; Schnabel, Dirk D; Wehner, Lars-Erik LE; Kratz, Christian P CP; Horn, Denise D; Kutsche, Kerstin K

Publication Date: 2007-02

Variant appearance in text: KRAS: P34R

PubMed Link: 17056636

Variant Present in the following documents:

• Main text

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