Varaico: Literature-Extracted Genetic Variants

Gene:CTTN
Variant:p.Y486Y
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CTTN

NM_005231.4:p.Y486Y

Associated Papers

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1

A common cortactin gene variation confers differential susceptibility to severe asthma.

Ma SF et al.

Genetic Epidemiology, 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."