Varaico: Literature-Extracted Genetic Variants

Gene:IRAG1
Variant:p.L121L
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IRAG1

NM_001098579.3:p.L121L

Associated Papers

Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.

Koehler K et al.

Neurogastroenterology and Motility, 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."