Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.Q4_P5ins4
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PIGC

NM_153747.2:p.Q4_P5ins4

Associated Papers

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

Pons L et al.

European Journal of Medical Genetics, 2020

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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."