Varaico: Literature-Extracted Genetic Variants

Gene:AFF2
Variant:p.Q1077*
Back to variants list

AFF2

NM_002025.4:p.Q1077*

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

AFF2 Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures.

Zou D et al.

Frontiers in Molecular Neuroscience, 2022

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Sanchis-Juan A et al.

Frontiers in Genetics, 2019

31316545 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."