Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP
Variant:p.R187H
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CEMIP

NM_001293298.2:p.R187H

Associated Papers

N-Terminal signal sequence is required for cellular trafficking and hyaluronan-depolymerization of KIAA1199.

Yoshida H et al.

Febs Letters, 2014

Murine homologue of the human KIAA1199 is implicated in hyaluronan binding and depolymerization.

Yoshida H et al.

Febs Open Bio, 2013

Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss.

Abe S et al.

Journal of Human Genetics, 2003

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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."