Varaico: Literature-Extracted Genetic Variants

Gene:RABGEF1
Variant:p.Y186insFs
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RABGEF1

NM_014504.3:p.Y186insFs

Associated Papers

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.

Young JM et al.

Annals of Human Genetics, 1998

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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."