Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.S76L
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EGF

NM_001963.6:p.S76L

Associated Papers

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.

Schlingmann KP et al.

Journal of the American Society of Nephrology : Jasn, 2021

Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

Biguzzi E et al.

Human Mutation, 2005

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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."