Varaico: Literature-Extracted Genetic Variants

Gene:OSMR
Variant:p.E527K
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OSMR

NM_003999.3:p.E527K

Associated Papers

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_A

Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.

Rodriguez-Flores JL et al.

Plos One, 2012

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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."