A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family

Autor: Binaafar, Sima, Razmara, Ehsan, Mahdieh, Nejat, Sahebjame, Hamidreza, Tavasoli, Ali Reza, Garshasbi, Masoud
Zdroj: In European Journal of Medical Genetics May 2020 63(5)
Databáze: ScienceDirect