Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.K1173Q
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TCF20

NM_001378418.1:p.K1173Q

Associated Papers

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F et al.

Genome Medicine, 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."