Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.M1insFs
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SHANK3

NM_001372044.2:p.M1insFs

Associated Papers

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Wu SW et al.

Italian Journal of Pediatrics, 2021

34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

Yang K et al.

Medicine, 2018

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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."