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: 3639T>A; Asp1213Glu

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N

Publication Date: 2020-05

Variant appearance in text: MSH6: D1213E

PubMed Link: 31965077

Variant Present in the following documents:

• 41436_2019_Article_736.pdf

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Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

International Journal Of Molecular Sciences

Liccardo, Raffaella R; De Rosa, Marina M; Rossi, Giovanni Battista GB; Carlomagno, Nicola N; Izzo, Paola P; Duraturo, Francesca F

Publication Date: 2017-05-06

Variant appearance in text: MSH6: 3639T>A

PubMed Link: 28481244

Variant Present in the following documents:

• Main text
• ijms-18-00999.pdf

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