Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.F28S
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PAG1

NM_018440.4:p.F28S

Associated Papers

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

Ilmarinen T et al.

Human Mutation, 2005

APECED-causing mutations in AIRE reveal the functional domains of the protein.

Halonen M et al.

Human Mutation, 2004

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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."