Publications:

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.

Diagnostics (Basel, Switzerland)

Miclea, Diana D; Alkhzouz, Camelia C; Bucerzan, Simona S; Grigorescu-Sido, Paula P; Popp, Radu Anghel RA; Pascanu, Ionela Maria IM; Cret, Victoria V; Ghervan, Cristina C; Blaga, Ligia L; Zaharie, Gabriela G

Publication Date: 2021-11-14

Variant appearance in text: ATM: 2332A>G

PubMed Link: 34829455

Variant Present in the following documents:

• diagnostics-11-02107.pdf

View BVdb publication page

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: ATM: N778D

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page