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: PC: A55T

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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A distinct holoenzyme organization for two-subunit pyruvate carboxylase.

Nature Communications

Choi, Philip H PH; Jo, Jeanyoung J; Lin, Yu-Cheng YC; Lin, Min-Han MH; Chou, Chi-Yuan CY; Dietrich, Lars E P LEP; Tong, Liang L

Publication Date: 2016-10-06

Variant appearance in text: PC: A55T

PubMed Link: 27708276

Variant Present in the following documents:

• Main text
• ncomms12713.pdf

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Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.

Cell

Chou, Christopher M CM; Nelson, Christine C; Tarlé, Susan A SA; Pribila, Jonathan T JT; Bardakjian, Tanya T; Woods, Sean S; Schneider, Adele A; Glaser, Tom T

Publication Date: 2015-04-23

Variant appearance in text: PC: A55T

PubMed Link: 25910211

Variant Present in the following documents:

• Main text

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