Varaico: Literature-Extracted Genetic Variants

Gene:AFF2
Variant:p.I1030L
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AFF2

NM_002025.4:p.I1030L

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

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.

Mondal K et al.

Human Molecular Genetics, 2012

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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."