Varaico: Literature-Extracted Genetic Variants

Gene:AFF2
Variant:p.T1021I
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AFF2

NM_002025.4:p.T1021I

Associated Papers

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Lucia-Campos C et al.

Frontiers in Genetics, 2024

39553472 (PubMed )
Supplement: Table2.XLSX › Supplementary_Table_1

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Valentino F et al.

Brain Sciences, 2021

34356170 (PubMed )
Supplement: brainsci-11-00936-s001.zip › Table_S4.pdf
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