Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A5
Variant:p.A246E
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SLC7A5

NM_003486.7:p.A246E

Associated Papers

Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons.

Cheung KH et al.

Science Signaling, 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."