Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.G293S
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EGF

NM_001963.6:p.G293S

Associated Papers

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

Matsunoshita N et al.

Journal of Human Genetics, 2018

Mutation burden profile in familial Alzheimer's disease cases from India.

Syama A et al.

Neurobiology of Aging, 2018

Role of an intramolecular contact on lipoprotein uptake by the LDL receptor.

Zhao Z et al.

Biochimica Et Biophysica Acta, 2011

Mechanism of LDL binding and release probed by structure-based mutagenesis of the LDL receptor.

Huang S et al.

Journal of Lipid Research, 2010

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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."