Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.K433E
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GPR50

NM_004224.3:p.K433E

Associated Papers

Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.

George S et al.

Endocrinology, 2003

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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."