Varaico: Literature-Extracted Genetic Variants

Gene:SHANK1
Variant:p.V1504A
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SHANK1

NM_016148.5:p.V1504A

Associated Papers

Coordination among frequent genetic variants imparts substance use susceptibility and pathogenesis.

Veerappa A et al.

Frontiers in Neuroscience, 2024

Multiple Rare Risk Coding Variants in Postsynaptic Density-Related Genes Associated With Schizophrenia Susceptibility.

Hu TM et al.

Frontiers in Genetics, 2020

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M et al.

The International Journal of Neuroscience, 2019

30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo

A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis.

Lennertz L et al.

European Archives of Psychiatry and Clinical Neuroscience, 2012

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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."