Varaico: Literature-Extracted Genetic Variants

Gene:C12orf60
Variant:p.A228A
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C12orf60

NM_175874.4:p.A228A

Associated Papers

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

Fiskerstrand T et al.

The New England Journal of Medicine, 2012

22436048 (PubMed )
Supplement: nejmoa1110132_appendix.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."