The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus.

Autor: Sabzeghabaiean, Masoud1,2 (AUTHOR), Maleknia, Mohsen2,3 (AUTHOR), Mohammadi-Asl, Javad2,4 (AUTHOR), Kazemi, Hashem2,4 (AUTHOR), Golab, Fereshteh3 (AUTHOR), Zargar, Zohreh1,2 (AUTHOR), Naseroleslami, Maryam1 (AUTHOR) maryamnaseroleslaami@gmail.com
Zdroj: Egyptian Journal of Medical Human Genetics. 3/26/2024, Vol. 25 Issue 1, p1-13. 13p.
Databáze: Academic Search Ultimate
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