Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.
Yu RenFeiyang DiaoSunita KatariSvetlana A YatsenkoHuaiyang JiangMichelle A Wood-TrageserAleksandar RajkovicPublished in: Molecular genetics & genomic medicine (2018)
Our findings indicate that NUP107 R355C variant falls in the category of variant of unknown significance as the cause of HH and infertility.