Publications:

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Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Journal Of Personalized Medicine

Wildin, Robert S RS; Gerrard, Diana L DL; Leonard, Debra G B DGB

Publication Date: 2022-11-28

Variant appearance in text: MSH6: Glu318Lys

PubMed Link: 36556183

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.

Genome Medicine

Ceyhan-Birsoy, Ozge O; Jayakumaran, Gowtham G; Kemel, Yelena Y; Misyura, Maksym M; Aypar, Umut U; Jairam, Sowmya S; Yang, Ciyu C; Li, Yirong Y; Mehta, Nikita N; Maio, Anna A; Arnold, Angela A; Salo-Mullen, Erin E; Sheehan, Margaret M; Syed, Aijazuddin A; Walsh, Michael M; Carlo, Maria M; Robson, Mark M; Offit, Kenneth K; Ladanyi, Marc M; Reis-Filho, Jorge S JS; Stadler, Zsofia K ZK; Zhang, Liying L; Latham, Alicia A; Zehir, Ahmet A; Mandelker, Diana D

Publication Date: 2022-08-15

Variant appearance in text: MSH6: Glu318Lys

PubMed Link: 35971132

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MSH6: 952G>A; Glu318Lys

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms.

Cancers

Mosquera Orgueira, Adrián A; Cid López, Miguel M; Peleteiro Raíndo, Andrés A; Díaz Arias, José Ángel JÁ; Antelo Rodríguez, Beatriz B; Bao Pérez, Laura L; Alonso Vence, Natalia N; Bendaña López, Ángeles Á; Abuin Blanco, Aitor A; Melero Valentín, Paula P; Ferreiro Ferro, Roi R; Aliste Santos, Carlos C; Fraga Rodríguez, Máximo Francisco MF; González Pérez, Marta Sonia MS; Pérez Encinas, Manuel Mateo MM; Bello López, José Luis JL

Publication Date: 2021-03-16

Variant appearance in text: MSH6: E318K

PubMed Link: 33809641

Variant Present in the following documents:

• Main text
• cancers-13-01340.pdf

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Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma.

Clinical Oncology And Research

Kassab, Cynthia C; Zamler, Daniel D; Kamiya-Matsuoka, Carlos C; Gatalica, Zoran Z; Xiu, Joanne J; Spetzler, David D; Heimberger, Amy B AB

Publication Date: 2019

Variant appearance in text: MSH6: E318K

PubMed Link: 31712784

Variant Present in the following documents:

• Main text
• nihms-1057814.pdf

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: MSH6: E318K

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 2

View BVdb publication page

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