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Additional file 6: Table S4. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Year: 2017

Type: dataset

Abstract: Detailed variant information for all verified variants, including ACMG classification â Table showing details for variant classification such as pathogenicity prediction algorithms results and details of ACMG criteria application. (XLSX 18 kb)

Source: Figshare

DOI: 10.6084/m9.figshare.c.3787337_d7

Authors: Zahir, Farah, Mwenifumbo, Jill, Chun, Hye-Jung, Lim, Emilia, Karnebeek, Clara Van, Couse, Madeline, Mungall, Karen, Lee, Leora, Makela, Nancy, Linlea Armstrong, Boerkoel, Cornelius, Langlois, Sylvie, McGillivray, Barbara, Jones, Steven, Friedman, Jan, Marra, Marco

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4394490730

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