Varaico: Literature-Extracted Genetic Variants

Gene:ASB12
Variant:p.G247C
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ASB12

NM_130388.4:p.G247C

Associated Papers

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA et al.

American Journal of Human Genetics, 2015

26637982 (PubMed )
Supplement: mmc1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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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."