Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.R1298K
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SHANK3

NM_001372044.2:p.R1298K

Associated Papers

Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands: A Potential Familial Occurrence in First-Degree Relatives.

Channir HI et al.

Head and Neck Pathology, 2017

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Gauthier J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Novel de novo SHANK3 mutation in autistic patients.

Gauthier J et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2009

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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."