Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.A1289insFs
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SHANK3

NM_001372044.2:p.A1289insFs

Associated Papers

Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature.

Sun YY et al.

World Journal of Psychiatry, 2025

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.

Nakhleh Francis Y et al.

Genetics in Medicine Open, 2023

39669259 (PubMed )
Supplement: mmc1.xlsx › ______1

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Brea-Fernández AJ et al.

European Journal of Human Genetics : Ejhg, 2022

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Nevado J et al.

Frontiers in Genetics, 2022

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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."