Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains

Autor: Cross, Esther, Duncan-Flavell, Philippa J., Howarth, Rachel J., Crooks, Richard O., Thomas, N. Simon, Bunyan, David J.
Zdroj: In European Journal of Medical Genetics July 2020 63(7)
Databáze: ScienceDirect