Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.S187C
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CAT

NM_001752.4:p.S187C

Associated Papers

Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.

Larsen ZM et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2004

Molecular genetics of cystic fibrosis.

Tsui LC et al.

Advances in Experimental Medicine and Biology, 1991

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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."