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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTF2I

Variant:p.M33_C34Splc

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GTF2I

NM_032999.4:p.M33_C34Splc

hg38:chr7:74689228 G>T

Associated Papers

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

Jury J et al.

Journal of Medical Genetics, 2025

40962490 (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."