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: rs2227935

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3

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ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19.

Heliyon

Al-Mulla, Fahd F; Mohammad, Anwar A; Al Madhoun, Ashraf A; Haddad, Dania D; Ali, Hamad H; Eaaswarkhanth, Muthukrishnan M; John, Sumi Elsa SE; Nizam, Rasheeba R; Channanath, Arshad A; Abu-Farha, Mohamed M; Ahmad, Rasheed R; Abubaker, Jehad J; Thanaraj, Thangavel Alphonse TA

Publication Date: 2021-02

Variant appearance in text: rs2227935

PubMed Link: 33532652

Variant Present in the following documents:

• Main text
• main.pdf

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A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Journal Of Translational Medicine

Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M

Publication Date: 2020-06-10

Variant appearance in text: BLM: 2603C>A; Pro868Gln

PubMed Link: 32522261

Variant Present in the following documents:

• 12967_2020_2391_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

American Journal Of Human Genetics

Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, Michał M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C

Publication Date: 2017-08-03

Variant appearance in text: rs2227935

PubMed Link: 28757201

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page