Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.M473fs
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TCF20

NM_001378418.1:p.M473fs

Associated Papers

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."