Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.R1213insFs
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SHANK3

NM_001372044.2:p.R1213insFs

Associated Papers

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Kolevzon A et al.

Molecular Autism, 2019

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S et al.

Molecular Autism, 2018

29719671 (PubMed )
Supplement: 13229_2018_205_MOESM1_ESM.xlsx › Table_S1
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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."