Publications:

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine

Sakaguchi, Narumi N; Suyama, Mikita M

Publication Date: 2022-03-18

Variant appearance in text: TERT: 2287-5G>A; rs561426406

PubMed Link: 35304488

Variant Present in the following documents:

• 41525_2022_294_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports

Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M

Publication Date: 2020-01-14

Variant appearance in text: rs561426406

PubMed Link: 31937788

Variant Present in the following documents:

• 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page