Varaico: Literature-Extracted Genetic Variants

Gene:SHANK1
Variant:p.L217*
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SHANK1

NM_016148.5:p.L217*

Associated Papers

Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant.

Dahlberg PM et al.

American Journal of Medical Genetics. Part A, 2025

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.

May HJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."