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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGQ

Variant:p.P364insFs

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PIGQ

NM_004204.5:p.P364insFs

hg38:chr16:578802 T>TC

Associated Papers

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.

Kušíková K et al.

Frontiers in Genetics, 2025

40718141 (PubMed )

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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."