Varaico: Literature-Extracted Genetic Variants

Gene:STK24
Variant:p.K351_M352Splc
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STK24

NM_001032296.4:p.K351_M352Splc

Associated Papers

Genomic strategies to understand causes of keratoconus.

Karolak JA et al.

Molecular Genetics and Genomics : Mgg, 2017

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Karolak JA et al.

Ophthalmic Genetics, 2016

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.

Karolak JA et al.

Investigative Ophthalmology & Visual Science, 2015

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Czugala M et al.

European Journal of Human Genetics : Ejhg, 2012

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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."