Varaico: Literature-Extracted Genetic Variants

Gene:ST14
Variant:p.G439S
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ST14

NM_021978.4:p.G439S

Associated Papers

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Ahmad F et al.

European Journal of Dermatology : Ejd, 2018

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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."