Varaico: Literature-Extracted Genetic Variants

Gene:SHANK1
Variant:p.P1035L
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SHANK1

NM_016148.5:p.P1035L

Associated Papers

Shank Proteins Couple the Endocytic Zone to the Postsynaptic Density to Control Trafficking and Signaling of Metabotropic Glutamate Receptor 5.

Scheefhals N et al.

Cell Reports, 2019

31597090 (PubMed )
Supplement: mmc1.pdf
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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."