Varaico: Literature-Extracted Genetic Variants

Gene:WLS
Variant:p.V43M
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WLS

NM_024911.7:p.V43M

Associated Papers

Molecular profiling of driver events in metastatic uveal melanoma.

Karlsson J et al.

Nature Communications, 2020

32313009 (PubMed )
Supplement: 41467_2020_15606_MOESM4_ESM.xlsx › All_variants

The antiviral protein viperin regulates chondrogenic differentiation via CXCL10 protein secretion.

Steinbusch MMF et al.

The Journal of Biological Chemistry, 2019

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.

Steinbusch MMF et al.

Scientific Reports, 2017

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT et al.

American Journal of Human Genetics, 2007

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Bonafé L et al.

Plos Genetics, 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."