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: HNPCC2: A589V; rs63750016

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Distinct genetic profiles of extracranial and intracranial acral melanoma metastases.

Journal Of Cutaneous Pathology

Sharma, Gaurav G; Lian, Christine G CG; Lin, William M WM; Amin-Mansour, Ali A; Jané-Valbuena, Judit J; Garraway, Levi L; Bao, Wendi W; Yoon, Charles H CH; Ibrahim, Nageatte N

Publication Date: 2016-10

Variant appearance in text: MLH1: A589V

PubMed Link: 27251777

Variant Present in the following documents:

• Main text

View BVdb publication page