Varaico: Literature-Extracted Genetic Variants

Gene:CTBP1
Variant:p.F53del1
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CTBP1

NM_001328.3:p.F53del1

Associated Papers

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

Järvelä I et al.

Human Genetics, 2021

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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."