Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.G265Splc
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PIGB

NM_004855.5:p.G265Splc

Associated Papers

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.

Palagano E et al.

Bone, 2021

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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."