Publications:

Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

Journal Of Clinical Medicine

Gerrish, Amy A; Bowns, Benjamin B; Mashayamombe-Wolfgarten, Chipo C; Young, Elizabeth E; Court, Samantha S; Bott, Joshua J; McCalla, Maureen M; Ramsden, Simon S; Parks, Michael M; Goudie, David D; Carless, Sue S; Clokie, Samuel S; Cole, Trevor T; Allen, Stephanie S

Publication Date: 2020-10-30

Variant appearance in text: rs9585307

PubMed Link: 33143217

Variant Present in the following documents:

• jcm-09-03517-s001.pdf

View BVdb publication page

RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: ZIC5: 1549+605C>G

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page