Varaico: Literature-Extracted Genetic Variants

Gene:PI3
Variant:p.L80insFs
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PI3

NM_002638.4:p.L80insFs

Associated Papers

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.

Descargues P et al.

The Journal of Investigative Dermatology, 2006

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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."