Publications:

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Idiopathic Infertility as a Feature of Genome Instability.

Life (Basel, Switzerland)

Puzuka, Agrita A; Alksere, Baiba B; Gailite, Linda L; Erenpreiss, Juris J

Publication Date: 2021-06-29

Variant appearance in text: rs4647269

PubMed Link: 34209597

Variant Present in the following documents:

• Main text
• life-11-00628.pdf

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DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

International Journal Of Molecular Sciences

Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P

Publication Date: 2020-08-03

Variant appearance in text: MLH1: 791-1406C>T; rs4647269

PubMed Link: 32756484

Variant Present in the following documents:

• Main text
• ijms-21-05561.pdf

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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: MLH1: 791-1406C>T; rs4647269

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Genetic variants and cognitive functions in patients with brain tumors.

Neuro-Oncology

Correa, Denise D DD; Satagopan, Jaya J; Martin, Axel A; Braun, Erica E; Kryza-Lacombe, Maria M; Cheung, Kenneth K; Sharma, Ajay A; Dimitriadoy, Sofia S; O'Connell, Kelli K; Leong, Siok S; Karimi, Sasan S; Lyo, John J; DeAngelis, Lisa M LM; Orlow, Irene I

Publication Date: 2019-10-09

Variant appearance in text: rs4647269

PubMed Link: 31123752

Variant Present in the following documents:

• Main text

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Impact of DNA mismatch repair system alterations on human fertility and related treatments.

Journal Of Zhejiang University. Science. B

Hu, Min-hao MH; Liu, Shu-yuan SY; Wang, Ning N; Wu, Yan Y; Jin, Fan F

Publication Date: 2016-01

Variant appearance in text: rs4647269

PubMed Link: 26739522

Variant Present in the following documents:

• Main text

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Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility.

Bmc Medicine

Ji, Guixiang G; Long, Yan Y; Zhou, Yong Y; Huang, Cong C; Gu, Aihua A; Wang, Xinru X

Publication Date: 2012-05-17

Variant appearance in text: rs4647269

PubMed Link: 22594646

Variant Present in the following documents:

• Main text
• 1741-7015-10-49.pdf

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Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.

Plos One

Mrkonjic, Miralem M; Roslin, Nicole M NM; Greenwood, Celia M CM; Raptis, Stavroula S; Pollett, Aaron A; Laird, Peter W PW; Pethe, Vaijayanti V VV; Chiang, Theodore T; Daftary, Darshana D; Dicks, Elizabeth E; Thibodeau, Stephen N SN; Gallinger, Steven S; Parfrey, Patrick S PS; Younghusband, H Banfield HB; Potter, John D JD; Hudson, Thomas J TJ; McLaughlin, John R JR; Green, Roger C RC; Zanke, Brent W BW; Newcomb, Polly A PA; Paterson, Andrew D AD; Bapat, Bharati B

Publication Date: 2010-10-13

Variant appearance in text: rs4647269

PubMed Link: 20967208

Variant Present in the following documents:

• pone.0013314.s001.xls, sheet 1

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Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

Bmc Cancer

Zavodna, Katarina K; Krivulcik, Tomas T; Bujalkova, Maria Gerykova MG; Slamka, Tomas T; Martinicky, David D; Ilencikova, Denisa D; Bartosova, Zdena Z

Publication Date: 2009-11-20

Variant appearance in text: MLH1: 791-1406C>T; rs4647269

PubMed Link: 19930554

Variant Present in the following documents:

• Main text
• 1471-2407-9-405.pdf

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