Publications:

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: 3951dup; Arg1318Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

The Journal Of Molecular Diagnostics : Jmd

Nowak, Jonathan A JA; Yurgelun, Matthew B MB; Bruce, Jacqueline L JL; Rojas-Rudilla, Vanesa V; Hall, Dimity L DL; Shivdasani, Priyanka P; Garcia, Elizabeth P EP; Agoston, Agoston T AT; Srivastava, Amitabh A; Ogino, Shuji S; Kuo, Frank C FC; Lindeman, Neal I NI; Dong, Fei F

Publication Date: 2017-01

Variant appearance in text: N/A

PubMed Link: 27863258

Variant Present in the following documents:

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Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Nature Communications

Mar, Brenton G BG; Bullinger, Lars B LB; McLean, Kathleen M KM; Grauman, Peter V PV; Harris, Marian H MH; Stevenson, Kristen K; Neuberg, Donna S DS; Sinha, Amit U AU; Sallan, Stephen E SE; Silverman, Lewis B LB; Kung, Andrew L AL; Lo Nigro, Luca L; Ebert, Benjamin L BL; Armstrong, Scott A SA

Publication Date: 2014-03-24

Variant appearance in text: N/A

PubMed Link: 24662245

Variant Present in the following documents:

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