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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAG1

Variant:p.A22_A23del0

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PAG1

NM_018440.4:p.A22_A23del0

hg38:chr8:80993157 ACAGCAG>A

Associated Papers

Two novel mutations of the AIRE protein affecting its homodimerization properties.

Meloni A et al.

Human Mutation, 2005

15712268 (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."