MSH2 c.380A>G ;(p.N127S)

Variant ID: 2-47637246-A-G

NM_000251.2(MSH2):c.380A>G;(p.N127S)

This variant was identified in 43 publications

View GRCh38 version.




Publications:


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: MSH2: N127S
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience
Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL
Publication Date: 2023-03-17

Variant appearance in text: MSH2: 380A>G; N127S
PubMed Link: 36879825
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc3.xlsx, sheet 3
  • mmc4.xlsx, sheet 3
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: MSH2: 380A>G
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



RosettaDDGPrediction for high-throughput mutational scans: from stability to binding.

Protein Science : A Publication Of The Protein Society
Sora, Valentina V; Otamendi Laspiur, Adrian A; Degn, Kristine K; Arnaudi, Matteo M; Utichi, Mattia M; Beltrame, Ludovica L; De Menezes, Dayana D; Orlandi, Matteo M; Stoltze, Ulrik Kristoffer UK; Rigina, Olga O; Sackett, Peter Wad PW; Wadt, Karin K; Schmiegelow, Kjeld K; Tiberti, Matteo M; Papaleo, Elena E
Publication Date: 2022-12-03

Variant appearance in text: MSH2: N127S
PubMed Link: 36461907
Variant Present in the following documents:
  • Main text
  • PRO-32-e4527.pdf
  • PRO-32-e4527-s003.pdf
View BVdb publication page



Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

Child'S Nervous System : Chns : Official Journal Of The International Society For Pediatric Neurosurgery
Harder, Anja A
Publication Date: 2022-04

Variant appearance in text: MSH2: N127S
PubMed Link: 34997843
Variant Present in the following documents:
  • 381_2021_Article_5436.pdf
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 380A>G; Asn127Ser
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine
He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G
Publication Date: 2021-09-21

Variant appearance in text: MSH2: N127S
PubMed Link: 34622229
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: MSH2: 380A>G; Asn127Ser; rs17217772
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MSH2: 380A>G; Asn127Ser; rs17217772
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 2
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: MSH2: Asn127Ser; rs17217772
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: MSH2: 380A>G; Asn127Ser; rs17217772
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020

Variant appearance in text: MSH2: 380A>G; Asn127Ser
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: MSH2: Asn127Ser; rs17217772
PubMed Link: 32039725
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_652.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: N127S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.

International Journal Of Molecular Sciences
Wu, Bohua B; Peng, Yunhui Y; Eggert, Julia J; Alexov, Emil E
Publication Date: 2019-09-28

Variant appearance in text: MSH2: Asn127Ser
PubMed Link: 31569399
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: MSH2: 380A>G; N127S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.

Frontiers In Genetics
Simba, Hannah H; Kuivaniemi, Helena H; Lutje, Vittoria V; Tromp, Gerard G; Sewram, Vikash V
Publication Date: 2019

Variant appearance in text: MSH2: Asn127Ser; rs17217772
PubMed Link: 31428123
Variant Present in the following documents:
  • Main text
  • fgene-10-00642.pdf
View BVdb publication page



A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements.

Journal Of Oncology
Ellsworth, Darrell L DL; Turner, Clesson E CE; Ellsworth, Rachel E RE
Publication Date: 2019

Variant appearance in text: MSH2: Asn127Ser
PubMed Link: 31379942
Variant Present in the following documents:
  • JO2019-4382606.pdf
View BVdb publication page



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: MSH2: 380A>G; N127S
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: MSH2: 380A>G; Asn127Ser; rs17217772
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Polymorphism of MSH2 Gly322Asp and MLH1 -93G>A in non-familial colon cancer - a case-controlled study.

Archives Of Medical Science : Ams
Mik, Michal M; Dziki, Lukasz L; Malinowska, Katarzyna K; Trzcinski, Radzislaw R; Majsterek, Ireneusz I; Dziki, Adam A
Publication Date: 2017-10

Variant appearance in text: MSH2: Asn127Ser
PubMed Link: 29181059
Variant Present in the following documents:
  • AMS-13-29777.pdf
View BVdb publication page



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: MSH2: 380A>G; Asn127Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: HNPCC1: N127S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: MSH2: N127S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women.

Familial Cancer
Smolarz, Beata B; Makowska, Marianna M; Samulak, Dariusz D; Michalska, Magdalena M MM; Romanowicz, Hanna H
Publication Date: 2015-03

Variant appearance in text: MSH2: Asn127Ser; rs17217772
PubMed Link: 25134804
Variant Present in the following documents:
  • Main text
  • 10689_2014_Article_9746.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: MSH2: N127S; rs17217772
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 3
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Clinical utility of KRAS and BRAF mutations in a cohort of patients with colorectal neoplasms submitted for microsatellite instability testing.

Clinical Colorectal Cancer
Cushman-Vokoun, Allison M AM; Stover, Daniel G DG; Zhao, Zhiguo Z; Koehler, Elizabeth A EA; Berlin, Jordan D JD; Vnencak-Jones, Cindy L CL
Publication Date: 2013-09

Variant appearance in text: MSH2: N127S
PubMed Link: 23773459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Human Mutation
Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2013-01

Variant appearance in text: MSH2: Asn127Ser
PubMed Link: 22949387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions.

Bmc Evolutionary Biology
Morgan, Claire C CC; Shakya, Kabita K; Webb, Andrew A; Walsh, Thomas A TA; Lynch, Mark M; Loscher, Christine E CE; Ruskin, Heather J HJ; O'Connell, Mary J MJ
Publication Date: 2012-07-12

Variant appearance in text: HNPCC1: N127S
PubMed Link: 22788692
Variant Present in the following documents:
  • Main text
  • 1471-2148-12-114.pdf
View BVdb publication page



ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

The Journal Of Molecular Diagnostics : Jmd
Pritchard, Colin C CC; Smith, Christina C; Salipante, Stephen J SJ; Lee, Ming K MK; Thornton, Anne M AM; Nord, Alex S AS; Gulden, Cassandra C; Kupfer, Sonia S SS; Swisher, Elizabeth M EM; Bennett, Robin L RL; Novetsky, Akiva P AP; Jarvik, Gail P GP; Olopade, Olufunmilayo I OI; Goodfellow, Paul J PJ; King, Mary-Claire MC; Tait, Jonathan F JF; Walsh, Tom T
Publication Date: 2012-07

Variant appearance in text: MSH2: 380A>G; N127S
PubMed Link: 22658618
Variant Present in the following documents:
  • Main text
View BVdb publication page



The cumulative effects of polymorphisms in the DNA mismatch repair genes and tobacco smoking in oesophageal cancer risk.

Plos One
Vogelsang, Matjaz M; Wang, Yabing Y; Veber, Nika N; Mwapagha, Lamech M LM; Parker, M Iqbal MI
Publication Date: 2012

Variant appearance in text: MSH2: 380A>G; Asn127Ser; rs17217772
PubMed Link: 22623965
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Human Mutation
Kantelinen, Jukka J; Kansikas, Minttu M; Candelin, Satu S; Hampel, Heather H; Smith, Betsy B; Holm, Liisa L; Kariola, Reetta R; Nyström, Minna M
Publication Date: 2012-08

Variant appearance in text: MSH2: 380A>G; Asn127Ser
PubMed Link: 22581703
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of pathogenic human MSH2 missense mutations using yeast as a model system: a laboratory course in molecular biology.

Cell Biology Education
Gammie, Alison E AE; Erdeniz, Naz N
Publication Date: 2004

Variant appearance in text: MSH2: N127S
PubMed Link: 22039344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation
Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M
Publication Date: 2011-01

Variant appearance in text: MSH2: 380A>G; N127S
PubMed Link: 21120944
Variant Present in the following documents:
  • Main text
  • humu0032-0107.pdf
View BVdb publication page



Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
Limburg, Paul J PJ; Harmsen, William S WS; Chen, Helen H HH; Gallinger, Steven S; Haile, Robert W RW; Baron, John A JA; Casey, Graham G; Woods, Michael O MO; Thibodeau, Stephen N SN; Lindor, Noralane M NM
Publication Date: 2011-06

Variant appearance in text: MSH2: 380A>G; N127S
PubMed Link: 21056691
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Martinez, Sandra L SL; Kolodner, Richard D RD
Publication Date: 2010-03-16

Variant appearance in text: MSH2: N127S
PubMed Link: 20176959
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

Journal Of Biomedical Science
Doss, C George Priya CG; Sethumadhavan, Rao R
Publication Date: 2009-04-24

Variant appearance in text: MSH2: N127S; rs17217772
PubMed Link: 19389263
Variant Present in the following documents:
  • Main text
View BVdb publication page



Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Hampel, Heather H; Frankel, Wendy L WL; Martin, Edward E; Arnold, Mark M; Khanduja, Karamjit K; Kuebler, Philip P; Clendenning, Mark M; Sotamaa, Kaisa K; Prior, Thomas T; Westman, Judith A JA; Panescu, Jenny J; Fix, Dan D; Lockman, Janet J; LaJeunesse, Jennifer J; Comeras, Ilene I; de la Chapelle, Albert A
Publication Date: 2008-12-10

Variant appearance in text: MSH2: 380A>G; Asn127Ser
PubMed Link: 18809606
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.

Bmc Medical Genetics
Christensen, Lise Lotte LL; Madsen, Bo E BE; Wikman, Friedrik P FP; Wiuf, Carsten C; Koed, Karen K; Tjønneland, Anne A; Olsen, Anja A; Syvänen, Ann-Christine AC; Andersen, Claus L CL; Orntoft, Torben F TF
Publication Date: 2008-06-11

Variant appearance in text: MSH2: 380A>G; Asn127Ser
PubMed Link: 18547406
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-52.pdf
View BVdb publication page



Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

Genetics
Gammie, Alison E AE; Erdeniz, Naz N; Beaver, Julia J; Devlin, Barbara B; Nanji, Afshan A; Rose, Mark D MD
Publication Date: 2007-10

Variant appearance in text: MSH2: N127S
PubMed Link: 17720936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

The Journal Of Molecular Diagnostics : Jmd
Hegde, Madhuri M; Blazo, Maria M; Chong, Belinda B; Prior, Tom T; Richards, Carolyn C
Publication Date: 2005-10

Variant appearance in text: MSH2: N127S
PubMed Link: 16237223
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Goodfellow, Paul J PJ; Buttin, Barbara M BM; Herzog, Thomas J TJ; Rader, Janet S JS; Gibb, Randall K RK; Swisher, Elizabeth E; Look, Katherine K; Walls, Ken C KC; Fan, Ming-Yu MY; Mutch, David G DG
Publication Date: 2003-05-13

Variant appearance in text: MSH2: Asn127Ser
PubMed Link: 12732731
Variant Present in the following documents:
  • Main text
View BVdb publication page