Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.Q527fs
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PIGQ

NM_148920.4:p.Q527fs

Associated Papers

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Johnstone DL et al.

Journal of Inherited Metabolic Disease, 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."