Varaico: Literature-Extracted Genetic Variants

Gene:GTF2I
Variant:p.R143*
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GTF2I

NM_032999.4:p.R143*

Associated Papers

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF

Autism risk in offspring can be assessed through quantification of male sperm mosaicism.

Breuss MW et al.

Nature Medicine, 2020

31873310 (PubMed )
Supplement: NIHMS1544276-supplement-2.xlsx › Supplementary_Data_1
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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."