Varaico: Literature-Extracted Genetic Variants

Gene:CTBP1
Variant:p.E53_K54del1
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CTBP1

NM_001012614.2:p.E53_K54del1

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

33710394 (PubMed )
Supplement: 439_2021_2268_MOESM11_ESM.xlsx › Supplementary_Table_1
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