Varaico: Literature-Extracted Genetic Variants

Gene:ST14
Variant:p.M1I
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ST14

NM_021978.4:p.M1I

Associated Papers

Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes.

Chen YW et al.

The Journal of Investigative Dermatology, 2014

Epithelial integrity is maintained by a matriptase-dependent proteolytic pathway.

List K et al.

The American Journal of Pathology, 2009

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.

Alef T et al.

The Journal of Investigative Dermatology, 2009

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.

Avrahami L et al.

Clinical Genetics, 2008

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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."