Varaico: Literature-Extracted Genetic Variants

Gene:OSMR
Variant:p.P694L
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OSMR

NM_003999.3:p.P694L

Associated Papers

A novel oncostatin M/interleukin-31 receptor mutation in familial primary localized cutaneous amyloidosis.

Adams R et al.

Clinical and Experimental Dermatology, 2020

Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis.

Lu P et al.

Clinical and Experimental Dermatology, 2019

Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree.

Bhoyrul B et al.

The American Journal of Dermatopathology, 2019

[Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis].

Mao B et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

A novel missense mutation in oncostatin M receptor beta causing primary localized cutaneous amyloidosis.

Saeedi M et al.

Biomed Research International, 2014

Familial primary localized cutaneous amyloidosis with an oncostatin M receptor-β mutation, Pro694Leu.

Schreml S et al.

Clinical and Experimental Dermatology, 2013

The molecular skin pathology of familial primary localized cutaneous amyloidosis.

Tanaka A et al.

Experimental Dermatology, 2010

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.

Lin MW et al.

European Journal of Human Genetics : Ejhg, 2010

New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis.

Tanaka A et al.

The British Journal of Dermatology, 2009

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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."