Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.Q391_H392Splc
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ALG9

NM_024740.2:p.Q391_H392Splc

Associated Papers

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome.

Neves Rebello Alves L et al.

Heliyon, 2024

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