Varaico: Literature-Extracted Genetic Variants

Gene:TNRC6B
Variant:p.W680*
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TNRC6B

NM_001162501.2:p.W680*

Associated Papers

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

Deng Y et al.

Birth Defects Research, 2025

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s014.xlsx › Sheet_1

Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.

Zhou F et al.

Molecular Biology Reports, 2024

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.

Yang Q et al.

Molecular Genetics & Genomic Medicine, 2024

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Eising E et al.

Molecular Psychiatry, 2019

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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."