Varaico: Literature-Extracted Genetic Variants

Gene:WLS
Variant:p.K73R
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WLS

NM_024911.7:p.K73R

Associated Papers

A novel experimental approach for the selective isolation and characterization of human RNase MRP.

Derksen M et al.

Rna Biology, 2022

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Hirose Y et al.

Journal of Human Genetics, 2006

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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."