Varaico: Literature-Extracted Genetic Variants

Gene:FRY
Variant:p.K2181R
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FRY

NM_023037.3:p.K2181R

Associated Papers

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Boisson B et al.

The Journal of Experimental Medicine, 2015

26008899 (PubMed )
Supplement: supp_jem.20141130_JEM_20141130_TableS2.xlsx › Sheet1

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S3.xls › Table_S4
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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."