Varaico: Literature-Extracted Genetic Variants

Gene:RETN
Variant:p.C78S
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RETN

NM_020415.4:p.C78S

Associated Papers

In Silico Analysis of Coding/Noncoding SNPs of Human RETN Gene and Characterization of Their Impact on Resistin Stability and Structure.

Elkhattabi L et al.

Journal of Diabetes Research, 2019

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability.

Wangensteen T et al.

American Journal of Medical Genetics. Part A, 2013

Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance.

Beckers S et al.

European Journal of Endocrinology, 2011

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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."