Varaico: Literature-Extracted Genetic Variants

Gene:TCF7L2
Variant:p.Y423C
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TCF7L2

NM_001367943.1:p.Y423C

Associated Papers

TCF7L2 acts as a molecular switch in midbrain to control mammal vocalization through its DNA binding domain but not transcription activation domain.

Qi H et al.

Molecular Psychiatry, 2023

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.

Nakhleh Francis Y et al.

Genetics in Medicine Open, 2023

39669259 (PubMed )
Supplement: mmc1.xlsx › ______1

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

Dias C et al.

American Journal of Medical Genetics. Part A, 2021

Driver mutations occur frequently in metastases of well-differentiated small intestine neuroendocrine tumours.

Samsom KG et al.

Histopathology, 2021

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."