Varaico: Literature-Extracted Genetic Variants

Gene:PIGN
Variant:p.F259S
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PIGN

NM_176787.5:p.F259S

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."