Varaico: Literature-Extracted Genetic Variants

Gene:CTCFL
Variant:p.R448H
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CTCFL

NM_001386993.1:p.R448H

Associated Papers

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants.

Tan B et al.

Frontiers in Pediatrics, 2023

37664546 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_S3
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