Varaico: Literature-Extracted Genetic Variants

Gene:OSMR
Variant:p.V631L
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OSMR

NM_003999.3:p.V631L

Associated Papers

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Sharma M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Familial primary localized cutaneous amyloidosis in a Japanese family.

Ueo D et al.

Journal of Dermatological Science, 2016

Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry.

Chang YT et al.

The British Journal of Dermatology, 2014

The molecular skin pathology of familial primary localized cutaneous amyloidosis.

Tanaka A et al.

Experimental Dermatology, 2010

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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."