Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.A253T
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CTSC

NM_001814.6:p.A253T

Associated Papers

Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.

Abdel-Hamid MS et al.

Archives of Oral Biology, 2024

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."