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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHANK3

Variant:p.A1313_M1317delFs

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SHANK3

NM_001372044.2:p.A1313_M1317delFs

hg38:chr22:50721545 GCCCCGGCCCCCAT>G

Associated Papers

Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.

Hao Y et al.

Frontiers in Genetics, 2022

36118903 (PubMed )

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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."