Varaico: Literature-Extracted Genetic Variants

Gene:RSAD2
Variant:p.L28P
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RSAD2

NM_080657.5:p.L28P

Associated Papers

Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.

Sparks AE et al.

The Journal of Biological Chemistry, 2016

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

Ilmarinen T et al.

Human Mutation, 2005

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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."