PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome
Article in Heliyon (March 2024)
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Article in Heliyon (March 2024)
Article in International Journal of Molecular Sciences (February 2024)
Article in 中华医学遗传学杂志 (September 2023)