Varaico: Literature-Extracted Genetic Variants

Gene:PIGL
Variant:p.A166fs
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PIGL

NM_004278.4:p.A166fs

Associated Papers

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Pagnamenta AT et al.

European Journal of Human Genetics : Ejhg, 2017

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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."