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: HNPCC1: Q288A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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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: Q288A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Alterations in cellular metabolism triggered by URA7 or GLN3 inactivation cause imbalanced dNTP pools and increased mutagenesis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Schmidt, Tobias T TT; Reyes, Gloria G; Gries, Kerstin K; Ceylan, Cemile Ümran CÜ; Sharma, Sushma S; Meurer, Matthias M; Knop, Michael M; Chabes, Andrei A; Hombauer, Hans H

Publication Date: 2017-05-30

Variant appearance in text: MSH2: Q288A

PubMed Link: 28416670

Variant Present in the following documents:

• Main text

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